Clinical Trials for PCD

Study Summary

The overall short-term goals of this project include the following: 1) identify the genes that are key to the function of respiratory cilia to protect the normal lung; and 2) the effects of genetic mutations that adversely affect ciliary function and cause primary ciliary dyskinesia (PCD), which results in life-shortening lung disease. The long-term goal of this project is to develop better understanding of the underlying genetic variability that adversely modifies ciliary function, and predisposes to common airway diseases, such as asthma and chronic obstructive pulmonary disease.

Conditions

• Kartagener Syndrome

Eligibility

Inclusion Criteria

• * Patients who have a high suspicion for the diagnosis of PCD, based on clinical features
• Healthy Volunteers who have a family member with confirmed PCD.

Study Summary

Monitoring patients with chronic, inflammatory airways disease particularly in the early stages is hampered by the relative insensitivity of current outcome measures to detect subtle changes. Multiple breath washout is a potential sensitive test that is a useful readout of disease at these early stages but it lacks standardisation and knowledge of variability with reference to standard lung function measures. This is a Cross sectional and longitudinal observation study. The hypothesis is that multiple breath washout-derived indices will provide a robust signal of gas mixing inhomogeneity, correlating with conventional measures of airway disease severity. Multiple breath washout performed on different devices will generate indices which correlate but differ in value.

Conditions

• Cystic Fibrosis
• Primary Ciliary Dyskinesia
• Bronchiectasis
• Asthma
• Bronchitis
• Sleep Disorder

Interventions

• Multiple breath washout testing

Eligibility

Study Summary

Studies evaluating respiratory and peripheral muscle functions in PCD patients and comparing them with healthy children are limited in the literature. There is no study investigating pulmonary and extrapulmonary effects in Kartagener syndrome, which is a form of PCD. The aim of our study is to compare respiratory functions, respiratory muscle strength and endurance, exercise capacity, peripheral muscle strength, physical activity level and quality of life in patients with PCD, Kartagener syndrome and healthy children.

Conditions

• Primary Ciliary Dyskinesia

Eligibility

Inclusion Criteria

• Patients;
• * Individuals aged 6-18 years, who were diagnosed with PCD and Kartagener syndrome, and received standard medical treatment, were included in the study.
• Healthy controls;
• -Individuals between the ages of 6 and 18 without a known chronic disease will be included.

Exclusion Criteria

• Patients;
• * Patients who are uncooperative, have orthopedic or neurological disorders that will affect functional capacity, and have pneumonia or any acute infection during the evaluation will be excluded from the study.
• Healthy controls;
• -Those with a known chronic disease, uncooperative and orthopedic or neurological disorders that will affect functional capacity will not be included.

Study Summary

Primary Ciliary Dyskinesia associated with abnormalities of lateralization of organs (with existence of a situs inversus in 50% of cases) and secondary fertility disorders related in humans to abnormalities of mobility of sperm but very little data on the structure and function of tubal cilia in women

Conditions

• Salpingectomy
• Hysterectomy
• Primary Ciliary Dyskinesia
• Ectopic Pregnancy

Interventions

• salpingectomy
• hysterectomy

Eligibility

Inclusion Criteria

• * Patients with scheduled salpingectomy (Ectopic pregnancy, hysterectomy for prolapsus, adenomyosis or myomectomy)
• * Major patients ( \>18 years)

Exclusion Criteria

• * Patient not willing to participate in the study

Study Summary

The purpose of this study is to learn about using the imaging to make images of the lungs and nose with the long-term goal of the research leading to potential treatments and new therapies for patients with cystic fibrosis.

Conditions

• Cystic Fibrosis
• COPD
• PCD - Primary Ciliary Dyskinesia
• Covid19
• Sinusitis

Eligibility

Study Summary

This study investigates the use of hyperpolarized 129Xe magnetic resonance imaging (MRI) in children with primary ciliary dyskinesia (PCD) in detecting ventilation defects. The investigators will establish the feasibility and reliability of this test and how it changes compared to other pulmonary function tests.

Conditions

• Primary Ciliary Dyskinesia

Eligibility

Inclusion Criteria

• * Diagnosis of PCD as having either (i) biallelic mutations in known PCD genes or (ii) classic transmission electron microscopy structural ciliary defect
• * Informed consent and verbal assent (as appropriate) provided by the participant's parent or legal guardian and the participant
• * Ages 6-18 years and able to perform reproducible spirometry and achieve a breath hold duration sufficient for MRI acquisition

Exclusion Criteria

• * Any other cardiac or respiratory disease
• * Inability to perform a breath-hold of adequate duration for MRI acquisition
• * Medical instability that would preclude the ability to undergo the required investigations
• * FEV1 % predicted \<40% on any PFT within last 2 months at time of consent
• * Use of supplementary oxygen
• * Severe claustrophobia
• * Pregnancy or lactation
• * Presence of metal implants or other MRI contraindications

Study Summary

Primary ciliary dyskinesia is an autosomal recessive disorder characterized by abnormal ciliary movement and disrupted mucociliary clearance. In uncleaned airways, microorganisms and respiratory irritants cause inflammation and infection. Permanent rhinitis and chronic sputum cough are typical features in primary ciliary dyskinesia patients. Primary ciliary dyskinesia is a disease that threatens lung function from pre-school age. One of the main causes of respiratory muscle weakness in chronic lung diseases diseases is worsening of lung function. Such a weakness causes alveolar hypoventilation, microatelectasis, reduction of the cough strength .The cough strength is important for airway cleaning. Exercise capacity is affected in chronic lung diseases. Assessment of exercise capacity in chronic lung diseases is prognostically important. Reduced exercise capacity and pulmonary function in PCD cause decrease in physical activity level. PCD patients have low quality of life and early recognition has been found to affect the quality of life positively. Children with chronic illness have higher level of depression than healthy children. In literature, no study investigated respiratory muscle strength, exercise capacity and physical activity PCD patients. Therefore, the investigators aimed to compare aforementioned outcomes in PCD patients and healthy controls.

Conditions

• Primary Ciliary Dyskinesia

Eligibility

Inclusion Criteria

• * Diagnosed primary ciliary dyskinesia patients,
• * 6-18 years of age,
• * under standard medications,
• * stable patients without exacerbation or infection

Exclusion Criteria

• * having cognitive disorder,
• * orthopedic or neurological disease with a potential to affect functional capacity,
• * acute infections or pneumonia,
• * problems which may prevent evaluating such as visual problems

Study Summary

Cytobacteriological examination of sputum and bacteriological sampling in the middle meatus.

Conditions

• Cystic Fibrosis
• Primary Ciliary Dyskinesia

Interventions

• Middle meatus aspirations and sputum

Eligibility

Inclusion Criteria

• * Patients over 6 years old
• * Patients with cystic fibrosis or primary ciliary dyskinesia.
• * Patients capable of performing an expectorations
• * Patients having been informed of the research, having received the information note and not having opposed the research

Exclusion Criteria

• - Refusal to participate in the study

Study Summary

Impaired pulmonary function, decreased physical activity, functional capacity and depending on these factors are reported in patients with primary ciliary dyskinesia in recent studies. The purpose of this study to evaluate the effects of game based approach on pulmonary function, functional capacity and quality of life in patients with primary ciliary dykinesia.

Conditions

• Primary Ciliary Dyskinesia
• Kartagener Syndrome
• Immotile Cilia Syndrome

Interventions

• Home based therapy
• Game and home based therapy

Eligibility

Inclusion Criteria

• * Being diagnosed with PCD
• * Being clinically stable
• * Between 6-18 years old
• * Volunteer to participate in research

Exclusion Criteria

• * Not having a stable clinical condition
• * Patients with severe neuromuscular, musculoskeletal and rheumatological problems
• * Patients with loss of balance
• * Not being cooperative

Study Summary

Whole genome sequencing of Korean patients with idiopathic bronchiectasis and their family will perform to identify disease-causing variants.

Conditions

• Bronchiectasis Idiopathic
• Cystic Fibrosis
• Primary Ciliary Dyskinesia

Interventions

• Whole genome sequencing

Eligibility

Inclusion Criteria

• * If the patient has bronchiectasis proved by computed tomography (CT).
• * The clinical features of the patient are suitable for ciliary dysfunction disease (primary ciliary dyskinesia, cystic fibrosis), alpha1-antitrypsin deficiency, and primary immune deficiency (hyper-immunoglobulin E syndrome, hypogammaglobulinemia, activated phosphoinositide 3-kinase (PI3K) delta syndrome, bare lymphocyte syndrome)
• * The patient has no apparent medical events causing bronchiectasis.

Exclusion Criteria

• * If the patient does not agree or withdraw
• * If the patient has any clear etiology causing bronchiectasis including AIDS, malignancy, receiving immunosuppressant or chemotherapy.

Study Summary

This is a small pilot / feasibility study (Approximately 50 patients) to assess the possibility of clinical implementation of MRI assessment of patients with cystic fibrosis and primary ciliary dyskinesia. Patients will undergo their standard CT imaging and lung function investigations and additionally will undergo MRI examination. Reports from CT (the current gold standard) and MRI will be assessed for concordance and patient acceptability and examination implementation costs will also be assessed. Novel MRI-based potential markers of CF and PCD disease state will also be assessed.

Conditions

• Cystic Fibrosis
• Primary Ciliary Dyskinesia

Interventions

• MRI

Eligibility

Inclusion Criteria

• * Known CF or PCD Referred for CT chest

Exclusion Criteria

• * Contraindication to MRI (Pacemaker etc) Unable to stay still for MRI

Study Summary

Primary purpose is to identify individuals who have PCD due to a genetic mutation within the DNAI1 and other genes of interest to help refer participants to future clinical studies for this rare disease.

Conditions

• Primary Ciliary Dyskinesia

Interventions

• Sano Genetics Testing Kit

Eligibility

Inclusion Criteria

• 1. Participant must be at least 18 years old.
• 2. Participant must have a prior diagnosis of PCD or be deemed eligible upon completion of the PCD-enrichment screening questionnaire.
• 3. Participant must be under the care of an HCP for their PCD or symptoms potentially related to PCD.
• 4. Participant must be able to read, write, and understand English, and reside in a country where the shipment of biological samples is allowed.
• 5. Participant must be willing to be tested for genes involved in PCD.
• 6. Participant must be willing to be notified of eligibility for clinical studies (if appropriate)

Exclusion Criteria

• In ability to meet any of the inclusion criteria

Study Summary

The iPCD Cohort is an international cohort that assembles available retrospective datasets and prospectively newly collected clinical and diagnostic data from patients suffering from primary ciliary dyskinesia (PCD) worldwide, to answer pertinent questions on clinical phenotype, disease severity, prognosis and effect of treatments in patients with this rare multiorgan disease.

Conditions

• Primary Ciliary Dyskinesia
• Kartagener Syndrome

Eligibility

Inclusion Criteria

• Patients diagnosed with primary ciliary dyskinesia

Exclusion Criteria

• -

Study Summary

The purpose of the international prospective PCD Patient Registry is to systematically measure, survey and compare different aspects of PCD manifestation, course and treatment, to provide data for epidemiological research and to identify special patient groups suitable for multi-center trials. This International PCD Registry is also part of the European Reference Network ERN-LUNG. We follow the recommendations of the EU Expert Committee on Rare Diseases (EUCERD), which recommend an international interoperability of registries and databases to pool and exchange knowledge and data on rare diseases.

Conditions

• Primary Ciliary Dyskinesia (PCD)

Eligibility

Inclusion Criteria

• Patients of any age who fulfil the diagnostic criteria below are eligible:
• Clinical presentation consistent with PCD and consistent findings specific for PCD in at least two of the following methods:
• high frequency video microscopic finding transmission electron microscopy finding immunofluorescence finding low nasal NO concentration/production demonstration of biallelic disease-causing mutations by genotyping
• Given the complexity of diagnosing PCD, it is anticipated that not all patients will meet these definite diagnostic criteria. Therefore, individuals with typical clinical symptoms and only one abnormal diagnostic test are also eligible to enter the registry. These cases usually are considered to have a possible PCD diagnosis with exceptions made on an individual basis.

Study Summary

This is a multi-dose study with RCT1100 and is designed to provide safety, tolerability and preliminary efficacy data for future clinical studies.

Conditions

• Primary Ciliary Dyskinesia (PCD)

Interventions

• RCT1100

Eligibility

Inclusion Criteria

• * The participant is a male or female, 18 to 75 years of age, inclusive, at the time of consent.
• * Participant has disease-causing (pathogenic and/or likely pathogenic) mutations in the DNAI1 gene.
• * The participant has a percent predicted forced expiratory volume in 1 second (FEV1pp) of at least 40% predicted.

Exclusion Criteria

• * History or presence of clinically significant medical, surgical, clinical laboratory, or psychiatric condition or disease.
• * History of cancer, with exception of adequately treated basal cell or squamous cell carcinoma of the skin.
• * Predisposition to bleeding or clinically meaningful hemorrhagic event in the 12 months prior
• * Medically significant hemoptysis.
• * Anticoagulation therapy for the treatment of a pulmonary embolus or has had a pulmonary embolus in the last 6 months of screening.
• * Active tuberculosis infection.
• * 12-lead ECG with QT interval \&amp;gt;450 msec (or \&amp;gt;480 msec for BBB)
• * Laboratory abnormalities in clinical laboratory tests at screening:
• 1. Serum creatinine level
• 2. Total bilirubin, aspartate aminotransferase or alanine aminotransferase values
• 3. Hematological or coagulation values outside the normal reference range
• * Any medical history of disease that has the potential to cause a rise in total bilirubin over the ULN.
• * COVID-19 infection within 4 weeks of Screening or receipt of COVID-19 vaccine within 2 weeks prior to first dose of RCT1100.
• * Receipt of vaccine with live virus, attenuated live virus, or live viral components within 2 weeks prior to first dose of RCT1100 or to receive these vaccines during treatment or within 8 weeks of completion of study treatment.
• Other protocol defined inclusion/exclusion criteria may apply.

Study Summary

The goal of this observational study is to characterize clinical measures and biomarkers of airway disease in adults with primary ciliary dyskinesia (PCD) and in a group of healthy volunteers (HV) to establish normative values. Lung function, mucociliary clearance, radiological findings, and clinical findings will be assessed. Furthermore, quality of life will be assessed using QOL-PCD, a disease specific questionnaire.

Conditions

• Primary Ciliary Dyskinesia

Interventions

• Spirometry
• Multiple Breath Washout (MBW)
• Mucociliary Clearance (MCC)
• CT of the chest
• MRI of the chest

Eligibility

Inclusion Criteria

• * PCD diagnosis with confirmation of 2 identified pathogenic genetic variants within 1 of the following ultrastructure variants:
• * DNAI1 ODA defect
• * Other ODA defect
• * IDA - MTD defect
• * RS defect
• * Informed consent

Exclusion Criteria

• * Are a current smoker (e-cigarette, tobacco, or marijuana)
• * Are a former smoker who discontinued smoking \<1 year prior to enrollment or has a cumulative 1+ pack-year smoking history
• * Have a recent stable forced expiratory volume in one second (FEV1) \<35% predicted
• * Have contraindications for MRI studies (implanted devices/materials; inability to tolerate; claustrophobia or severe anxiety that would preclude MRI/imaging)
• * Have had a significant clinical radiation exposure (as determined by the investigator) within the past 6 months. Potential participants who have had a chest CT within the past 6 months may be eligible to be enrolled and their clinical CT will be utilized as the baseline for this study
• * Are pregnant or breastfeeding
• * Have any comorbidities likely to impact lung function (e.g., complex congenital heart disease, severe scoliosis, diseases involving immune dysregulation, lung transplantation, lung lobectomy, end-stage renal disease, or poor overall health status).

Study Summary

this study is aiming at learning more about primary ciliary dyskinesia (PCD) and tests that are used to diagnose this condition. One purpose of this study is to measure the level of nitric oxide in the nasal passages and examine how often the results correlate with other tests currently done to make the diagnosis.

Conditions

• Primary Ciliary Dyskinesia

Eligibility

Inclusion Criteria

• * Individuals who are diagnosed with Primary Ciliary Dyskinesia OR
• * Individuals with abnormal PCD diagnostics (abnormal ciliary biopsy or PCD genetics) OR
• * Individuals with unexplained bronchiectasis OR
• * Individuals undergoing PCD diagnostic testing (ciliary biopsy, PCD genetic testing) or concern based on clinical symptoms (at least two of the following):
• * Neonatal respiratory distress
• * Organ laterality defects
• * Year-round cough starting in first year of life or bronchiectasis on chest CT
• * Year-round nasal congestion starting in first year of life or pansinusitis
• * Multiple ear infections in the first two years of life with sequelae (e.g. ear tubes, chronic effusion, abnormal audiological exam)
• * History of recurrent pneumonias (at least 2 in one year or more than 3 at any time)
• * Ability to provide consent for participation in study by the participants or guardian
• * Ability to perform the test
• * Age \>= 2 years of age

Exclusion Criteria

• * Individuals who are unable to understand the requirements of the study.
• * Individuals (or guardians) who are unwilling to provide consent.
• * Individuals who are unable to complete the testing
• * Recent history of sinus surgery (within four weeks) or bloody nose (within one week) of testing (they can be included at a later date)
• * Patients who are currently being treated (within one week) with antibiotics for sinusitis or respiratory symptoms (they can be included at a later date)
• * Age \<2 years of age

Study Summary

Using routinely collected clinical data, this study aims to quantify intra-individual (i.e. in the same individual) variations between measurements of lung function in stable patients with primary ciliary dyskinesia (PCD), a rare genetic disease that causes lung damage.

Conditions

• Primary Ciliary Dyskinesia

Interventions

• Lung function measurement

Eligibility

Inclusion Criteria

• * Children (\>5 years of age) and adults being follow-up for PCD
• * Availability of at least minimal dataset (spirometry data), at least every 6 months
• * Outpatients and/or in-patients

Exclusion Criteria

• * Children \< 5 years of age
• * Regular interval between spirometry testing \> 6 months

Study Summary

This is the second in-human study with RCT1100 and is designed to provide safety, tolerability and preliminary efficacy data for future clinical studies.

Conditions

• Primary Ciliary Dyskinesia

Interventions

• RCT1100

Eligibility

Inclusion Criteria

• * Healthy, adult, male or female of, 18-70 years of age, inclusive, at screening.
• * Participant has clinical diagnosis of PCD and disease-causing mutations in the DNAI1 gene
• * Participant has a forced expiratory volume in one second (FEV1) of at least 50% predicted.

Exclusion Criteria

• * History or presence of clinically significant medical, surgical, clinical laboratory, or psychiatric condition or disease.
• * History of cancer, with exception of adequately treated basal cell or squamous cell carcinoma of the skin.
• * Predisposition to bleeding or clinically meaningful hemorrhagic event in the 12 months prior
• * Medically significant hemoptysis.
• * Anticoagulation therapy for the treatment of a pulmonary embolus or has had a pulmonary embolus in the last 6 months of screening.
• * Active tuberculosis infection.
• * 12-lead ECG with QT interval \&amp;gt;450 msec (or \&amp;gt;480 msec for BBB)
• * Laboratory abnormalities in clinical laboratory tests at screening:
• 1. Serum creatinine level
• 2. Total bilirubin, aspartate aminotransferase or alanine aminotransferase values
• 3. Hematological or coagulation values outside the normal reference range
• * Any medical history of disease that has the potential to cause a rise in total bilirubin over the ULN.
• * COVID-19 infection within 4 weeks of Screening or receipt of COVID-19 vaccine within 2 weeks prior to first dose of RCT1100.
• * Receipt of vaccine with live virus, attenuated live virus, or live viral components within 2 weeks prior to first dose of RCT1100 or to receive these vaccines during treatment or within 8 weeks of completion of study treatment.
• Other protocol defined inclusion/exclusion criteria may apply.

Study Summary

The purpose of this study is to determine the effect of a dietary supplement rich in nitric oxide (NO) on nasal nitric oxide and fractional exhaled nitric oxide (FeNO),on ciliary beat frequency assessed by high-speed digital video microscopy and on lung function assessed by spirometry in normal patients and patients with Primary ciliary dyskinesia (PCD).

Conditions

• Primary Ciliary Dyskinesia

Interventions

• Beet-it Juice

Eligibility

Inclusion Criteria

• Experimental group:
• * PCD patients
• Control Group:
• * patients with no known chronic lung disease
• * 18 years to 99 years

Exclusion Criteria

• * any other pulmonary co-morbidities and diseases entities like cystic fibrosis, nasal sinus surgery, nasal sinus hypoplasia/aplasia, deviated nasal septum, nasal polyps and with upper respiratory tract infection
• * patients allergic to beet
• * a known prolonged bleeding disorder.

Study Summary

Primary Ciliary Dyskinesia (PCD) is a rare disease, which means that any single PCD center has experience with a limited number of patients. PCD Registry is the collection of data about PCD from many centers and countries who treat children with PCD. Collecting data about PCD increase the knowledge on PCD, better describe the course of the disease, and help to better understand the progression of the disease and be used to develop new treatments. In the PCD registry of Alberta, important information about PCD such as time of diagnosis, symptoms, and tests which led to the diagnosis, state of health at diagnosis, the progression of lung function, the occurrence of severe infections, tests and treatments data will be collected from the patients' medical records.

Conditions

• Primary Ciliary Dyskinesia

Eligibility

Inclusion Criteria

• * Clinical diagnosis of PCD
• * Abnormal findings in at least two of the following tests:
• High-frequency video microscopic finding, transmission electron microscopy finding, immunofluorescence finding, low nasal NO concentration/production, demonstration of biallelic disease-causing mutations by genotyping.

Exclusion Criteria

• • Failure or unwillingness to give written informed consent.

Study Summary

Mucociliary clearance, in which mucus secretions are cleared from the breathing airways, is the primary defense mechanism for the lungs. Inhaled particles, including microbes that can cause infections, are normally entrapped in mucus on the airway surfaces and then cleared out by the coordinated action of tiny hair-like structures called cilia. Individuals with primary ciliary dyskinesia, variant cystic fibrosis, and pseudohypoaldosteronism have defective mucociliary clearance. The purpose of this study is to collect clinical and genetic information about these three airway diseases to improve current diagnostic procedures.

Conditions

• Kartagener Syndrome
• Cystic Fibrosis
• Pseudohypoaldosteronism
• Primary Ciliary Dyskinesia

Eligibility

Inclusion Criteria

• * Received a standard diagnostic evaluation prior to study entry that resulted in one of the following three profiles:
• 1. High likelihood of PCD diagnosis, based on ciliary ultrastructural changes seen on electron microscopy or clinical features (chronic sinopulmonary disease, chronic otitis media, history of neonatal respiratory distress or situs inversus) OR one clinical feature of PCD and a sibling with PCD
• 2. Chronic sino-pulmonary disease with clinical features that overlap with variant CF and PCD, but with diagnostic tests that rule out classical CF (sweat chloride testing and CF gene mutation screening)
• 3. Known or suspected PHA (or variant PHA), possibly including elevated (or borderline) sweat chloride values

Exclusion Criteria

• * Has not received a standard clinical evaluation to rule out other disorders associated with chronic sino-pulmonary disease

Study Summary

Although patients with bronchiectasis tend to have non reversible obstructive patterns on pulmonary function tests (PFTs), reversible obstruction is not uncommon. While bronchodilator response (BDR) is a main characteristic of asthma, the pathophysiology causing this phenomenon in bronchiectasis patients is less clear. The goal of this clinical trial is to assess BDR in patients with bronchiectasis. The main aims of this study: 1. To evaluate the role of bronchodilators in BDR testing of patients with bronchiectasis. 2. Characterize and compare BDR between different subgroups of patients with bronchiectasis, and compared to patients without bronchiectasis (healthy controls). 3. Identify demographics and other clinical variables associated with positive BDR Participants will be taking a series of three spirometry tests: After the first spirometry testing, patients will be randomly assigned to receive bronchodilators as per bronchodilator response protocol (Salbutamol, 100 mcg, 4 puffs via spacer) or four puffs of placebo. After a waiting time of 15 minutes, spirometry will be repeated. Following the second spirometry testing those who received salbutamol will now receive placebo and those receiving placebo will receive Salbutamol. After a second period of 15 minutes, a third series of spirometry will be recorded.

Conditions

• Bronchiectasis
• Cystic Fibrosis
• Primary Ciliary Dyskinesia
• Primary Immune Deficiency
• Bronchiolitis Obliterans

Interventions

• spirometry
• Salbutamol
• placebo

Eligibility

Inclusion Criteria

• * Patients with bronchiectasis confirmed by CT scan
• * No recent pulmonary exacerbation as determined by prescription of systemic antibiotics in 7 days prior to BDR testing
• * No use of long-acting beta agonists (LABA) 12 hours before BDR testing or short acting beta agonist (SABA) 4 hours before testing

Exclusion Criteria

• * Patients under 5 years of age
• * Patients incapable to perform proper spirometry

Study Summary

The overall objective of this longitudinal, observational study is to provide information needed to inform the design of future interventional trials of respiratory exacerbation prevention and treatment in children and adults with primary ciliary dyskinesia (PCD).

Conditions

• Primary Ciliary Dyskinesia
• Kartagener Syndrome

Eligibility

Inclusion Criteria

• * Diagnosis of PCD
• 1. Clinical features consistent with PCD PLUS
• 2. At least 1 diagnostic test consistent with PCD:
• i) Biallelic pathogenic variants in PCD-associated genes identified by genetic panel testing including deletion/duplication analysis; ii) Ciliary ultrastructural defect by transmission electron microscopy known to be disease-causing, including outer dynein arm defects, outer dynein arm plus inner dynein arm (IDA) defects, IDA defects with microtubular disorganization and absent central pair
• * Age ≥ 6 years
• * At least one course of antibiotics (oral or IV) in the prior year prescribed to treat new or increased respiratory symptoms
• * Smart phone and/or internet access available in home
• * Informed consent provided by participant or parent/guardian, with assent provided as applicable

Exclusion Criteria

• * Acute course of antibiotics for respiratory symptoms completed \<14 days prior to enrollment or Visit 1 (evaluated at enrollment and Visit 1; visit may be rescheduled \>14 days after completion of antibiotics)
• * Developmental or cognitive disability that would impair ability to complete PRO instruments or perform spirometry
• * Congenital heart disease OTHER THAN repaired or resolved atrial septal defect (ASD) or ventricular septal defect (VSD)
• * Asplenia or functional asplenia
• * Co-existing non-pulmonary disease that, in the opinion of the investigator, could have significant impact on lung function or health-related quality of life (e.g., severe scoliosis) or overall health status (e.g., cancer, severe renal disease)
• * Listed for or post-lung transplantation

Study Summary

The Ear-Nose-Throat (ENT) Prospective International Cohort of patients with Primary Ciliary Dyskinesia (EPIC-PCD) is a prospective observational clinical cohort study, set up as a multinational multi-centre study. It is embedded into routine patient care of participating reference centres for PCD and patients keep being managed according to local procedures and guidelines.

Conditions

• Primary Ciliary Dyskinesia
• Kartagener Syndrome

Eligibility

Inclusion Criteria

• * Diagnosis of PCD (clinical and test certified)
• * Patient must undergo an ENT examination minimum once a year as part of their clinical follow-up

Exclusion Criteria

• None

Study Summary

The purpose of this study is to determine whether patients with primary ciliary dyskinesia (PCD) have reduced or absent otolith function.The otolith system is a specific part of the inner ear vestibular (balance) system that detects linear movement.

Conditions

• Primary Ciliary Dyskinesia

Interventions

• Vestibular evoked myogenic potentials (VEMPs)
• Utricular centrifugation test

Eligibility

Inclusion Criteria

• * aged 16-30 years
• * Confirmed diagnosis of PCD under the care of the PCD team at the Royal Brompton Hospital

Exclusion Criteria

• * Aged under 16 years
• * Unconfirmed or "suspected" PCD
• * Previous history of balance disorders or diagnoses
• * Previous history of sensorineural hearing loss
• * Previous middle or inner ear surgery (other than grommet insertion)

Study Summary

The main aim of the study is to evaluate upper extremity exercise capacity and muscle oxygenation in patients with primary ciliary dyskinesia. The secondary aim of the study is to evaluate respiratory function, respiratory muscle strength and endurance, peripheral muscle strength, balance, physical activity level and quality of life in patients with primary ciliary dyskinesia and compare all parameters with healthy controls.

Conditions

• Primary Ciliary Dyskinesia

Eligibility

Inclusion Criteria

• Patients;
• * 6-18 years old
• * Diagnosed with primary ciliary dyskinesia
• * Stability of clinical condition
• Healthy controls;
• * 6-18 years old

Exclusion Criteria

• Patients;
• * Diagnosed neurological, cognitive problem that can affect evaluations,
• * Acute pneumonia or any infection
• * History of exacerbation in the last 1 month
• * More than 10% change in FEV1 in the last 6 months
• * History of coronavirus disease (COVID-19)
• * History of smoking
• * Diagnosed vision, hearing, vestibular, or neurological problems that can affect balance
• * Diagnosed orthopedic problems affecting mobility or a history of musculoskeletal surgery
• Healthy controls;
• * Diagnosed neurological, cognitive problem that can affect evaluations
• * Diagnosed vision, hearing, vestibular, or neurological problems that can affect balance
• * History of coronavirus disease (COVID-19)
• * History of smoking
• * Trouble understanding and following the exercise test instruction

Study Summary

The study hypothesis is that dilations of idiopathic bronchi are particularly common in French Polynesia, and that there are arguments in favour of an underlying genetic factor. The study will retrieve retrospective data in the history of bronchial dilation, patients' personal and family history, microbiological and scannographic data, and the latest cardio respiratory checkup.

Conditions

• Polynesian Bronchiectasis

Eligibility

Inclusion Criteria

• * Polynesian patient
• * Patient with bronchial dilation followed by Centre hospitalier de Polynesie Francaise or patient with bonchial dilation no longer consulting in the hospital over the study period Jan 1, 2010 to Dec 31, 2020

Exclusion Criteria

• * Expressed refusal to participate in the study for patients undergoing follow-up

Study Summary

Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder characterized by dysfunction of motile cilia associated with recurrent infections of the airways, laterality defects (Situs inversus totalis in about 50% of cases) and fertility problems. At present, mutations in \> 45 genes associated with PCD and mucociliary clearance disorders have been identified, representing most likely two thirds of all human cases. The aims of this study are: 1. Correlation between nasal NO levels and distinct PCD genotypes 2. Determination of further parameters potentially associated with nasal NO levels in genotyped PCD individuals 1. course of clinical manifestations (e.g. neonatal distress, infections, bronchiectasis) 2. diagnostic results (HVMA, TEM, IF) 3. lung function outcome (FVC, FEV1)

Conditions

• Ciliary Motility Disorders
• Primary Ciliary Dyskinesia

Eligibility

Inclusion Criteria

• 1. Patients with a genetically confirmed diagnosis of PCD (bi-allelic mutations in a gene, known to cause PCD) with typical clinical symptoms of PCD
• 2. PCD individuals of all age groups with at least one nNO measurement performed according to diagnostic guidelines. Serial nNO measurements should be included if available (e.g. yearly), at least for infants and young children

Exclusion Criteria

• -

Study Summary

OBJECTIVES: I. Characterize the clinical presentation of patients with primary ciliary dyskinesia. II. Identify the genetic mutations associated with this disease.

Conditions

• Primary Ciliary Dyskinesia

Eligibility

Study Summary

The COVID-PCD is a participatory research project that aims to study how COVID-19 affects people with primary ciliary dyskinesia (PCD). The study is advertised through patient support groups and participants register online and answer a baseline questionnaire with details on PCD diagnosis, habitual symptoms, and COVID-19 episodes occurring before study entry. A short weekly follow-up questionnaire includes questions on incident SARS-CoV-2 infections, current symptoms, social contact behaviour, and physical activity. Occasionally, participants receive extra questionnaires focused on special topics. The study is hosted at the University of Bern and recruitment started on May 30th, 2020.

Conditions

• Primary Ciliary Dyskinesia

Eligibility

Inclusion Criteria

• * People of any age with reported suspected or confirmed Primary Ciliary Dyskinesia who gave consent to participate in the study

Exclusion Criteria

• * People who report not to have suspected or confirmed Primary Ciliary Dyskinesia

Study Summary

This is a new gene discovery program for individuals with PCD who do not have a specific genetic etiology identified. Research procedures involve a single blood draw from the affected individual and from unaffected family members in an effort to identify new genetic targets.

Conditions

• Primary Ciliary Dyskinesia

Interventions

• There is no intervention

Eligibility

Inclusion Criteria

• * • Age 0-90 years
• * Confirmed diagnosis of PCD by either ciliary ultrastructure abnormality or two known disease-causing alleles in a known PCD gene OR individuals with clinical suspicion of PCD without a confirmatory test (genetics or ciliary biopsy) as defined by: low nasal nitric oxide testing (\<77nl/min) on two separate occasions at least two months apart or compatible clinical phenotype, but unable to do nasal nitric oxide testing secondary to age or other factors OR relative of one of the previously defined individuals with PCD
• * Ability to provide informed consent or consent of parent/guardian and assent for minors

Exclusion Criteria

• * • Inability to understand the requirements of the study or be unwilling to provide written informed consent (as evidenced by signature on an informed consent document approved by the IRB) OR inability of parent/guardian to understand the requirements of the study

Study Summary

Healthy volunteers and patients with diseases that involve problems clearing mucus from the lungs will be examined and tested to better understand the reasons for recurring lung infections in these patients and to try to develop better ways to diagnose and treat them. The study will also try to identify the genes responsible for these diseases. Healthy volunteers 18 years of age and older and patients 2 years of age or older with suspected primary ciliary dyskinesia (PCD), variant cystic fibrosis (CF) or pseudohypoaldosteronism (PHA) may be eligible for this study. Patients enrolled in the Natural History Study of Nontuberculous Mycobacteria at NIH or other NIH natural history protocols may also be enrolled. Participants undergo the following tests and procedures during a 1-day visit at the NIH Clinical Center, as follows: All patients and normal volunteers have the following procedures: * Physical examination and review of medical and genetic history and family genetic history. * Lung function test and measurement of oxygen saturation level. * Nitric oxide measurement to measure the amount of nitric oxide production in the nose: A small tube is placed in the nose while the subject breathes through the mouth into a cardboard tube. All patients have the following additional procedures: * Blood tests for liver and kidney function, blood count, immunoglobulins and pregnancy test (where appropriate). * Blood test or buccal scrape (brushing the inside of the cheek) to obtain DNA to look for gene mutations that cause PCD, CF or PHA. * Scrape biopsy of cell lining the inside of the nose: A small toothpick-sized plastic stick with a tiny cup on the end is used to get nasal lining cells to look at the cilia (hair-like structures that move mucus). * Semen analysis (in some men) to test sperm tail function or structure. Patients suspected of having a variant of CF or PHA, including nontuberculous mycobacterial lung disease, have the following additional procedures: * Sweat chloride test: A medicine is placed on the arm to produce sweat; then, a very low level of electric current is applied for 5 to 12 minutes. Sweat is collected in a plastic tube and tested for salt content. * Blood draw for CF genetic testing, if necessary, and to measure levels of the enzyme trypsin. * Saliva collection to measure sodium and chloride content. * Nasal potential difference to measure the electrical activity of the cells lining the inside of the nose: A soft plastic tube filled with a salt solution is passed into the nasal passage and a sterile needle is placed under the skin of the arm. This test provides information about how the lining of the nose is able to get used to changes in temperature and humidity. (Normal volunteers also have this test.)

Conditions

• Cystic Fibrosis
• Pseudohypoaldosteronism
• Nontuberculous Mycobacterial Infection
• Chronic Granulomatous Disease
• Primary Ciliary Dyskinesia

Eligibility

Study Summary

Primary Ciliary Dyskinesia (PCD) is a severe genetic disorder caused by various mutations in genes affecting ciliary motility. Various new and complementary diagnostic techniques, including measurements of nasal nitric oxide (NO), Video Microscopy (VM), Immunoflourescence (IF) and genetic analysis have recently been recognized as simpler and more accurate modalities for the diagnosis and characterization of patients with PCD compared to electron microscopy. While considered a rare disease worldwide, PCD is more prevalent among highly consanguineous populations, such as those found in Israel. We hypothesize that using modern state of the art and novel test modalities on a national scale in Israel will improve diagnosis, improve phenotypic-genotypic correlations and create a national registry for PCD.

Conditions

• Primary Ciliary Dyskinesia

Eligibility

Inclusion Criteria

• * Patients with PCD diagnosis
• * Subjects with suspected diagnosis of PCD

Exclusion Criteria

• * Subjects Uncooperative with study procedures

Study Summary

Background: * Bronchiectasis is a disease characterized by airways that are inflamed, abnormally dilated, and chronically infected. Individuals with bronchiectasis have a history of chronic and recurring respiratory infections. Depending on the underlying cause, these infections may involve the entire respiratory tract, resulting in sinus, ear, and lung disease. * Bronchiectasis continues to be a significant problem in developing countries and in specific groups of individuals, particularly in people who have cystic fibrosis. Although treatments are available or under development for bronchiectasis related to cystic fibrosis, many of the disease-specific treatments may not be effective for bronchiectasis not related to cystic fibrosis. Objectives: - To study the natural history of bronchiectasis to identify inherited and immune factors that may explain why certain individuals have chronic recurring infections. Eligibility: * Individuals 5 years of age and older who have an established diagnosis of bronchiectasis or a history of chronic/recurring respiratory infections. * Direct family members (e.g., parents, siblings, children) of patients in the study may also be asked to participate. Design: * Potential participants will be screened with an initial clinic evaluation and full medical history, as well as a general quality of life and respiratory symptom questionnaire. * The following standard procedures may be done as part of the study: air sampling from the nose; imaging studies, which may include an x-ray or computed tomography (CT), lung function tests; and collection of samples of blood, urine, and sputum (phlegm or mucus). Other tests may be performed as required by the researchers, and will be explained to patients as needed. * Both patients and relatives (if asked to participate) will provide the following samples: blood or buccal (cheek swab) cells for genetic testing, sputum, and urine. * To prevent infections and potential disease progression, patients may receive standard medical care and treatment for bronchiectasis and related infections during this protocol.

Conditions

• Bronchiectasis
• Cystic Fibrosis
• Autoimmune Disease
• Common Variable Immunodeficiency

Eligibility

Study Summary

This study is a multicenter, prospective cohort study of patients diagnosed with primary ciliary dyskinesia, the clinical information of recruited patients, including clinical manifestations, lung function, chest imaging, quality of life and other indicators, will be followed for 10 years.

Conditions

• Primary Ciliary Dyskinesia

Eligibility

Inclusion Criteria

• * Age 0\~18 years old
• * Any organ system symptoms consistent with PCD and being conform to the clinical diagnostic standard of Katergener syndrome or being coincident with at least two following specific tests:
• * Abnormal ciliary beat frequency or movement by the high speed photography microscope
• * Abnormal ciliary structure through the electronic microscopy
• * The nasal NO decreased significantly
• * The target gene mutation found
• * The clinical diagnostic criteria of the Katergener syndrome: ① bronchial expansion; ② sinusitis or nasal polyps; ③ transposition of viscera and (or) dextrocardia.
• * If all the typical clinical manifestations but only 1 specific test with positive results, can also be included in the registration of suspected PCD cases
• * Consent to provide the related clinical specimen to the certain hospital
• * The guardians of the patients fully understand the purpose of the study, volunteer their children to participate in this study, and sign informed consent.

Exclusion Criteria

• * It is unable to provide complete medical records or the current condition can not accept the diagnosis process
• * She or he cannot agree to participate in the study.

Study Summary

Mucociliary clearance, in which mucus secretions are cleared from the breathing airways, is the primary defense mechanism for the lungs. Inhaled particles, including microbes that can cause infections, are normally entrapped in mucus on the airway surfaces and then cleared out by the coordinated action of tiny hair-like structures called cilia. Individuals with primary ciliary dyskinesia (PCD) have defective mucociliary clearance, which in turn leads to lung infections and disease. The purpose of this study is to determine how lung disease progresses over time in children and adolescents with PCD.

Conditions

• Primary Ciliary Dyskinesia

Eligibility

Inclusion Criteria

• * Diagnosis of PCD or probable PCD. More information about the criteria for a PCD diagnosis can be found in the protocol.
• * Parent or guardian willing to provide informed consent

Exclusion Criteria

• * Inability to attend follow-up appointments
• * Previously received lung transplant
• * Any disease that may have significant impact on lung function (e.g., severe congenital heart disease, severe scoliosis), respiratory infections (e.g., AIDS), or overall health status (e.g., cancer, end-stage kidney disease)
• * Pregnant or breastfeeding

Study Summary

The aim of this study is to compare pulmonary function, respiratory muscle strength, exercise capacity and peripheral muscle strength of patients with CF, PCD and healthy childrens.

Conditions

• Primary Ciliary Dyskinesia
• Cystic Fibrosis

Interventions

• Measurement of functional capacity
• pulmonary function test
• Functional capacity
• Peripheral muscle strength
• Respiratory muscle strength

Eligibility

Inclusion Criteria

• * Diagnosis of cystic fibrosis or primary ciliary dyskinesia

Exclusion Criteria

• * Hospitalization history in past month
• * Diagnosis of other chronic pediatric diseases which may impair exercise tolerance such as cerebral palsy or neuromuscular disease
• * Candidates for lung transplantation or history of lung transplantation

Study Summary

This cross-sectional and longitudinal observational study is to gather data on the utility of tests that are used to make a diagnosis of primary ciliary dyskinesia (PCD). There is new testing available, called nasal nitric oxide testing, that non-invasively measures nitric oxide levels in the sinus cavity. Individuals with PCD characteristically have low levels, but this testing does not have extensive data from everyday clinical practice. The objective of this proposal is to improve the diagnostic approach to children and adults with clinical concerns for primary ciliary dyskinesia (PCD).

Conditions

• Primary Ciliary Dyskinesia

Interventions

• Nasal Nitric Oxide testing

Eligibility

Inclusion Criteria

• * Age ≥ 2 years of age
• * Must have two of the following clinical history points:
• * Neonatal respiratory distress
• * Chronic nasal congestion/runny nose
• * Chronic cough
• * Situs/laterality defects
• * Bronchiectasis
• * Ability to provide informed consent or consent of parent/guardian and ass

Exclusion Criteria

• * Recent history of sinus surgery or bloody nose in the past week
• * Age \< 2 years of age
• * Inability to tolerate probe in nose
• * Sinusitis or other respiratory exacerbation currently being treated with antibiotics
• * Admitted to hospital for respiratory exacerbation (inpatient status)
• * Inability to understand the requirements of the study or be unwilling to provide written informed consent (as evidenced by signature on an informed consent document approved by the IRB)
• * Any other reason for which the study investigators feel the patient is not a good candidate to complete the testing

Study Summary

This study is designed to study DNA sequencings for mutations in a research genetic test panel of genes (which contains all 32 known and/or published genes associated with PCD). The study aims to show that about 70% of PCD patients have biallelic mutations in one of these genes. This project will enroll patients who have already had a clinical evaluation, and have clinical features consistent with PCD.

Conditions

• Primary Ciliary Dyskinesia
• Kartagener Syndrome

Eligibility

Inclusion Criteria

• * Any patient who has ≥ 2 clinical features (+/- lab) characteristic of PCD, including:
• * Neonatal respiratory distress after term (or near-term) birth
• * and/or laterality defect ( situs inversus or heterotaxy)
• * and/or daily wet cough before 6 months of age
• * and/or middle ear disease
• * and/or chronic nasal congestion before 6 months of age
• * and/or bronchiectasis
• * and/or male infertility due to sperm tail dysfunction
• * and/or low nasal nitric oxide levels (\<77 nanoliters/minute)
• * and/or defective ciliary ultrastructure

Exclusion Criteria

• * Known diagnosis of cystic fibrosis with classic clinical presentation and elevated sweat chloride levels and/or two known disease-causing Cystic Fibrosis transmembrane conductance regulator (CFTR) mutations, or documented primary or acquired immunodeficiency.
• * Known explanation for bronchiectasis (and other clinical features), such as α1-antitrypsin deficiency (ZZ or ZS), inflammatory bowel disease or rheumatoid arthritis.
• * Any patient who is unwilling or unable to provide consent or to comply with the testing required in this protocol
• A participant should not be in the study if they have not had a standard clinical evaluation to address other potential causes of chronic oto-sino- pulmonary disease.

Study Summary

Background: Primary ciliary dyskinesia (PCD) is a rare genetic disease characterised by recurrent respiratory infections and subfertility due to dysfunction of cilia (brushes) of the lining cells. Undiagnosed and untreated it can result in an irreversible crippling chronic lung disease. The diagnosis of PCD is a difficult one and involves the complex assessment of ciliary structure and function. Thus, PCD is under diagnosed and appropriate preventative and symptomatic treatment may be denied in many patients. In addition, the gene responsible for PCD is at present unknown, thus preventing pre-natal diagnosis and genetic counseling. Working hypothesis and aims: Recently, it has become apparent that the evaluation of nasally expired nitric oxide (NO) constitutes a simple and non-invasive diagnostic method, which discriminates between PCD patients, PCD carriers and healthy controls at high rate of specificity and sensitivity. Testing is simple and last approximately one minute. We have recently identified a unique isolated Druze population with high prevalence of PCD. The high frequency of disease places this closed community at a high risk of undiagnosed PCD. The aim of this project is to use nasal NO measurement as a screening tool to identify possible undiagnosed cases of PCD and PCD carriers in this high risk Druze population.

Conditions

• Primary Ciliary Dyskinesia

Eligibility

Inclusion Criteria

• * Voluntary willing to participate

Exclusion Criteria

• * Recent URTI
• * Steroids use 2 weeks prior to testing

Study Summary

Primary ciliary dyskinesia is an inherited respiratory disease caused by various functional and ultrastructural abnormalities of respiratory cilia. The genetic heterogeneity underlying PCD is extremely important and only few genes are clearly implicated in PCD. Their mutations account for about 20% of patients. For all the other PCD patients, the genes responsible for their ciliary defect remain to be identify.

Conditions

• Primary Ciliary Dyskinesia
• Kartagener Syndrome

Interventions

• Blood sample

Eligibility

Inclusion Criteria

• * Patients with suspected or confirmed primary ciliary dyskinesia after ciliary investigations who accepted to participate to the genetic studies.

Exclusion Criteria

• * Patients with exclusion of primary ciliary dyskinesia after ciliary investigations.

Study Summary

The purpose of this study is to determine whether the medical device "simeox" is safe in the treatment of respiratory diseases, in comparison with traditional physiotherapy.

Conditions

• Broncho-degenerative Disease
• Chronic Obstructive Airway Disease
• Cystic Fibrosis
• Idiopathic Bronchiectasis
• Ciliary Dyskinesia
• Chronic Bronchitis

Interventions

• Simeox
• Physiotherapy

Eligibility

Inclusion Criteria

• * Patient over 18, male or female.
• * Patient affected by broncho-degenerative disease, chronic obstructive airway disease, cystic fibrosis, idiopathic bronchiectasis, ciliary dyskinesia and/or chronic bronchitis.
• * Hospitalization for a minimum of five days or a maximum of 8 days.
• * Bronchial clearance is usually productive.
• * FVC and / or FEV \<85% predicted, with stable lung function.
• * Agreement to participate to the study and signature of the informed consent form
• * Social security coverage.

Exclusion Criteria

• * Patient infected with bacteria resistant to antibiotics.
• * Bronchial clearance is not usually productive.
• * Patient with contra-indication for physiotherapy bronchial clearance.
• * Patient who received a lung transplant.
• * Care requires more than 2 sessions of chest physiotherapy daily.
• * Duration of mechanical ventilation \> 8h/day.
• * Patient with an episode of hemoptysis during the month before inclusion.
• * Patient with an episode of pneumothorax during the last month.
• * Pregnant or lactating women.
• * Patient with a disability and/or unwillingness to follow protocol requirements.
• * Patient participating in another clinical study or having tested an experimental drug within 30 days prior to his inclusion in the study.
• * Patient ( s) with another condition which, according to the investigator , may interfere with the result or conduct of the trial and thus justify their non- inclusion in the study.

Study Summary

The investigators will utilize a systematic approach for the diagnostic evaluation of patients to identify characteristics which may distinguish between Primary Immunodeficiency (PID) disorders versus Primary Ciliary Dyskinesia (PCD).

Conditions

• Primary Ciliary Dyskinesia
• Primary Immune Deficiency
• Kartagener Syndrome

Interventions

• Genetic Testing for PCD or PID
• Unaffected Family Member Genetic Testing

Eligibility

Inclusion Criteria

• General Criteria
• * Age 5-45 years
• * Male and Female Subjects
• * All races and ethnicities
• Major Clinical Criteria
• - Bronchiectasis in \> 1 lobe
• Minor Clinical Criteria, Lung
• * Neonatal respiratory distress (in term neonates with O2 requirement)
• * Chronic wet cough (year-round for at least 12 months)
• * Recurrent episodes of bacterial bronchitis
• * Recurrent pneumonia (confirmed on chest x-ray)
• * Respiratory non-tuberculous mycobacteria (NTM) (documented respiratory NTM culture)
• Minor Clinical Criteria, Other
• * Chronic nasal congestion
• * Recurrent/chronic paranasal sinusitis
• * Ongoing middle-ear disease and/or tympanostomy tube placement at age ≥ 4 years
• * Organ laterality defect
• * Low nasal nitric oxide (\< 77 nL/min) (by plateau measurement)
• * Confirmed family history of PID or PCD

Exclusion Criteria

• * Anyone who has a confirmed genetic diagnosis of PCD or PID
• * Cystic Fibrosis
• * Alpha-antitrypsin deficiency in adults (18 years and older)
• * Congenital upper or lower airway anomalies
• * Post-lung or heart transplant, or other conditions requiring immunosuppression therapy
• * Other confounding features, such as lung disease due to prematurity (born \< 28 weeks gestation) or HIV
• * Neurological compromise and evidence of recurrent aspiration
• * Conditions known to be commonly associated with bronchiectasis, such as prior mycobacterium tuberculosis
• * Have not had standard clinical evaluation to address other potential causes of chronic oto-sino- pulmonary disease, particularly cystic fibrosis, aspiration or airway anatomic abnormalities.

Study Summary

The Swiss Primary Ciliary Dyskinesia (PCD) Registry is a national patient registry that collects information on diagnosis, symptoms, treatment and follow-up of patients with PCD in Switzerland and provides data for national and international monitoring and research.

Conditions

• Primary Ciliary Dyskinesia
• Kartagener Syndrome

Eligibility

Inclusion Criteria

• * Patients diagnosed with primary ciliary dyskinesia
• * Signed informed consent or assent

Exclusion Criteria

• -

Study Summary

Primary ciliary dyskinesia (PCD) is characterized by impaired airway clearance and mucus stagnation. This results in recurrent upper and lower respiratory tract infections often leading to chronic inflammation and, if not treated early and properly, to irreversible functional and structural changes of the respiratory tract. As there is no causal treatment of PCD yet, airway clearance techniques (ACT) provide fundamental care for these patients. Simeox is a new airway clearance device, recently developed by the French company PhysioAssist. This technology is based on pneumatic vibrations generated by the device itself. Vibrations are induced by rapidly alternating between atmospheric and negative pressure as the patient exhales, providing the most effective clearance of mucus from the lungs. Vibrations of different intensity and frequency are known to alter the rheological properties of mucus in the airways, whilst the negative pressure during exhalation helps to mobilise and drain the mucus to the central bronchi. Although there have not yet been any evidence based papers published clarifying the effect of Simeox specifically in patients with PCD, using up-to-date information, experience, and positive feedback from our patients, we assume that there could be a significant benefit for the effectiveness of ACT.

Conditions

• Primary Ciliary Dyskinesia

Interventions

• Simeox
• PARI O PEP

Eligibility

Inclusion Criteria

• * diagnosis of PCD confirmed by Transmission Electron Microscopy (TEM) analysis of ciliary ultrastructure showing clear structural axonemal defect and/or positive genetic testing for one (autosomal dominant) or two (autosomal recesive) PCD-causing mutations;
• * age range 4 - 18 years;
• * established chest physiotherapy with PARI O PEP

Exclusion Criteria

• * inability to undergo the assessment and intervention
• * noncompliance and/or nonadherence

Study Summary

Though common, morbidities related to upper airway disease in primary ciliary dyskinesia (PCD) and primary immunodeficiencies (PID) have not been fully characterized. These conditions can be difficult to distinguish due to their overlapping phenotypes. The sinonasal and middle ear features are often identified as most problematic by patients and their families, and optimal, highly effective treatment regimens have not been established. The main objective of this project is to characterize and compare the upper airway phenotypes in individuals with confirmed diagnosis of PCD and PID, and to collect critical data to inform the design of future clinical trials of treatment of the upper airway diseases. The investigators anticipate that these investigations will discern the clinical, anatomical, and pathophysiological phenotypes of paranasal sinus disease in PCD and PID, identifying disease endpoints and biomarkers that differentiate these two overlapping disorders. Findings from these studies will also enhance our understanding of middle ear disease and associated hearing loss in a cross-sectional cohort of patients with PCD and PID. Ultimately, the long-term goal of our Consortium is to elucidate underlying phenotypes and genotypes of these diseases, potentially leading to novel therapeutics that will improve the lives of affected individuals. Given the COVID pandemic, certain procedures will have the option to be converted to telehealth visits to ensure compliance with local guidelines and participant safety.

Conditions

• Primary Ciliary Dyskinesia
• Kartagener Syndrome
• Primary Immune Deficiency

Eligibility

Inclusion Criteria

• Overall inclusion criteria for PCD and PID:
• * Ages ≥ 5-45 years.
• * Informed consent, and assent from minors.
• * Clinical features consistent with PCD plus
• * At least one diagnostic test consistent with PCD:
• 1. Biallelic pathogenic variants in PCD-associated genes identified by genetic panel testing including deletion/duplication analysis.
• 2. Ciliary ultrastructural defect by transmission electron microscopy known to be disease causing, including outer dynein arm defects, outer and inner dynein arm defects, or inner dynein arm defects with microtubular disorganization.
• - A clinical diagnosis of PID known to be associated with an increased risk of infections, as defined by the European Society of Immunodeficiencies (ESID) registry, AND a genetic confirmation with a known or likely pathogenic variant.
• OR a diagnosis of a common variable immunodeficiency (CVID) as defined by the ESID registry:
• a. At least one of the following:
• i. Increased susceptibility to infection
• ii. Autoimmune manifestations
• iii. Granulomatous disease
• iv. Unexplained polyclonal lymphoproliferation
• v. Affected family member with antibody deficiency
• b. AND marked decrease of IgG and IgA with or without low IgM levels
• c. AND at least one of the following:
• i. Poor antibody response to vaccines (and/or absent isohemagglutinins)
• ii. Low switched memory B cells (\<70 percent of age-related normal value)
• d. AND secondary causes of hypogammaglobulinemia have been excluded (e.g., infection, protein loss, medication, malignancy)
• e. AND diagnosis established after the 4th year of life
• f. AND no evidence of profound T cell deficiency

Exclusion Criteria

• * Inability to undergo study procedures
• * Reported increased respiratory symptoms within 3 weeks before the scheduled visit
• * Congenital craniofacial abnormalities (cleft lip and/or palate, hemifacial microsomia) that may result in otologic or sinus disease
• * Congenital hearing loss
• * Diagnosis of Trisomy 21, Kabuki syndrome, DiGeorge anomaly or syndrome, 22q11 deletion syndrome, or CHARGE syndrome
• * History of intranasal illicit drug use (i.e. cocaine) or intranasal abuse of over the counter or prescription drugs (i.e. oxycodone, acetaminophen, etc.)
• * Pregnancy
• * Known selective IgA deficiency, specific antibody deficiency (SPAD), selective IgG subclass deficiency, selective IgM deficiency, mannose-binding lectin deficiency, as well as inborn errors of immunity (IEIs) which are not known to be associated with an increased risk of infections (e.g. autoinflammatory syndromes; unclassified disorders of immune dysregulation)
• * Medical condition that is known to cause secondary immunodeficiency, including human immunodeficiency virus (HIV) infection, acquired immunodeficiency syndrome (AIDS), and/or active malignancy
• * Patients ever having received gene therapy, hematopoietic stem cell transplant, solid organ transplant, or thymus transplant
• * Treatment with targeted immune modulators or immune modifiers
• * Treatment with chronic systemic steroids

Study Summary

The purpose of this study is to measure mucociliary clearance (MCC) in groups of subjects with the disease Primary Ciliary Dyskinesia (PCD) caused by mutations in different genes, and compare to healthy subjects. Some of these genes are associated with a milder clinical phenotype. This study seeks to determine if the milder phenotype is a result of mutations in a set of specific genes. The hypothesis is that subjects with PCD caused by mutations in the milder group will maintain a low, but significant rate of mucociliary clearance, while patients with mutations in genes in the more severe group will have a complete absence of mucociliary clearance. These studies will help inform future treatment strategies.

Conditions

• Primary Ciliary Dyskinesia

Interventions

• Albuterol
• Technetium99m - Sulfur Colloid (Tc99m-SC)

Eligibility

Inclusion Criteria

• * Confirmed PCD diagnosis with identified genetic mutations
• * Negative pregnancy test for females who are not s/p hysterectomy with oophorectomy
• * Forced Expiratory Volume (FEV1) of at least 30 percent of predicted
• * Age ≥ 18 years old
• * Subjects must have an FVC, FEV1 and FVC/FEV1 of at least 80% of predicted. Subjects who fall out of the normal range will be offered a copy of the test to share with their personal physician.
• * No pre-existing lung disease (asthma, cystic fibrosis, etc.).
• * Negative pregnancy test for females who are not s/p hysterectomy with oophorectomy.

Exclusion Criteria

• * Any chronic medical condition considered by the PI as a contraindication to the exposure study including significant cardiovascular disease, diabetes, chronic renal disease, chronic thyroid disease, immunodeficiency, history of tuberculosis
• * Any acute infection requiring antibiotics within 4 weeks of study.
• * Mental illness or history of drug or alcohol abuse that, in the opinion of the investigator, would interfere with the participant's ability to comply with study requirements.
• * Medications which may impact the results of the study treatment, or may interfere with any other medications potentially used in the study (to include steroids, beta antagonists, non-steroidal anti-inflammatory agents)
• * Active smoking to include e-cigarettes within 1 year of the study, or lifetime of \> 10 pack years of smoking
• * History of vaping or current vaping.
• * Viral upper respiratory tract infection within 4 weeks of challenge.
• * Radiation exposure history in the past year which would be outside the safe levels
• * Pregnant or lactating women will also be excluded since the risks associated with radiation are unknown and cannot be justified
• * Use of the following medications:
• 1. Use of beta blocking medications
• 2. Receipt of LAIV (Live Attenuated Influenza Vaccine), also known as FluMist , within the prior 30 days, or any vaccine within the prior 5 days
• 3. Multivitamins, Vitamin C or E or herbal medications in the 4 days prior to the treatment visit
• 4. Non-steroidal anti-inflammatory drugs in the 4 days prior to the treatment visit.
• * Allergy/sensitivity to study drugs or their formulations:
• * Known Immunoglobulin E (IgE) mediated hypersensitivity to albuterol
• * Physical/laboratory indications:
• 1. Temperature \> 37.8 degrees Celsius (C)
• 2. Subjects \>15 years- Systolic BP \>150 mm hg or \< 90 mm Hg or diastolic BP\> 90 mm Hg or \< 50 and Subjects 12-15 years - Systolic BP \> 130 mmHg or \< 80 mmHg or diastolic BP \> 80 or \<40
• 3. Oxygen saturation of \< 93 percent
• * Inability or unwillingness of a participant to give written informed consent.

Study Summary

Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder characterized by dysfunction of motile cilia associated with recurrent infections of the airways, laterality defects (Situs inversus totalis in about 50% of cases) and fertility problems. At present, mutations in \> 45 genes associated with PCD and mucociliary clearance disorders have been identified, representing most likely two thirds of all human cases. Aim of this study are: * Correlation between genotype and lung function of patients with genetically confirmed PCD in an international cohort on a longitudinal basis * Determination of further parameters, such as body mass index (BMI), possibly associated with lung function in genetically confirmed PCD patients

Conditions

• Ciliary Motility Disorders
• Primary Ciliary Dyskinesia

Interventions

• Genetic diagnosis

Eligibility

Study Summary

The objective of this study is to compare the lower airways inflammatory response to infection/pulmonary exacerbation among children known to have Primary Ciliary Dyskinesia (PCD) with children known to have Cystic Fibrosis (CF) as measured by the presence of inflammatory mediators in expectorated/induced sputum.

Conditions

• Cystic Fibrosis
• Primary Ciliary Dyskinesia

Interventions

• Sputum Collection
• Pulmonary Function Testing
• Exhaled Nitric Oxide

Eligibility

Inclusion Criteria

• * Diagnosis of Cystic Fibrosis (CF) as defined by two or more clinical features of CF and a documented sweat chloride \> 60 mEq/L by quantitative pilocarpine iontophoresis test or a genotype showing two well characterized disease-causing mutations or a diagnosis of Primary Ciliary Dyskinesia (PCD) as follows: definite PCD (compatible phenotype, diagnostic abnormality of ciliary ultrastructure and/or two disease-causing gene mutations) or "probable" PCD (compatible phenotype, ciliary biopsy not diagnostic but low nasal NO (\<100nl/min) with negative investigation screen for both CF and immunodeficiency
• * Informed consent and verbal assent (as appropriate) provided by the subject's parent or legal guardian and the subject
• * 6-18 years of age at enrolment and able to perform reproducible spirometry
• * Clinically stable at enrolment (FEV \> 30%, oxyhaemoglobin sats \> 93%)
• * Ability to comply with study visits and study procedures

Exclusion Criteria

• * Respiratory culture positive for non-tuberculous mycobacteria (NTM), Stenotrophomonas maltophilia, Aspergillus fumigatus, Burkholderia cepacia complex, or Pseudomonas aeruginosa within past year.
• * Use of intravenous antibiotics or oral quinolones within previous 14 days
• * Use of inhaled antibiotics within the previous 28 days
• * Pneumothorax or haemoptysis

Study Summary

This is the first-in-human study with RCT1100 and is designed to provide initial safety and tolerability data for future clinical studies.

Conditions

• Primary Ciliary Dyskinesia

Interventions

• RCT1100

Eligibility

Inclusion Criteria

• * Healthy, adult, male or female of, 18-75 years of age, inclusive, at screening.
• * Participant has disease causing mutations in the DNAI1 gene
• * The participant has a forced expiratory volume in one second (FEV1) of at least 50% predicted.

Exclusion Criteria

• * History or presence of clinically significant medical, surgical, clinical laboratory, or psychiatric condition or disease.
• * History of cancer, with exception of adequately treated basal cell or squamous cell carcinoma of the skin.
• * Medically significant hemoptysis
• * Anticoagulation therapy for the treatment of a pulmonary embolus or has had a pulmonary embolus in the last 6 months of screening.
• * Active tuberculosis infection.
• * Laboratory abnormalities in clinical laboratory tests at screening:
• 1. Serum creatinine level
• 2. Total bilirubin, aspartate aminotransferase or alanine aminotransferase values
• 3. Hematological or coagulation values outside the normal reference range
• * Any medical history of disease that has the potential to cause a rise in total bilirubin over the ULN
• * History of alcohol abuse or drug addiction with the last year of screening.
• * Active smoker (vaping included).
• Other protocol defined inclusion/exclusion criteria may apply.

Study Summary

This study will examine genetic material obtained from blood and tissue samples of patients with congenital heart disease (CHD) and heterotaxy (an abnormality in the left-right positioning of organs in the body, also called situs inversus) to gain a better understanding of these disorders and of a lung disease called primary ciliary dyskinesia (PCD). CHD is prevalent in patients with heterotaxy. It is believed that certain forms of CHD or heterotaxy may have the same genetic origin as PCD. Individuals 2 years of age or older who have a CHD or heterotaxy or both may be eligible for this study. Participants undergo some or all of the following tests and procedures: * Blood tests, electrocardiogram (EGC) and chest x-ray. * Saliva collection: Subjects rinse their mouth with water, and then spit approximately 1.5 cc of saliva into a sterile container. * Buccal swabs: A small soft, toothbrush-like swab is rubbed on the inside lining of the cheek to collect tissue samples. * Nasal tests to measure nasal nitric oxide levels and to obtain tissue samples from the inside of the nostrils: For the nitric oxide level test, a rubber probe is inserted into one of the nostrils until it fits snugly and comfortably. The subject then takes a deep breath and then exhales all the way out through the mouth through a plastic device. During exhalation, gas measurements are recorded on a computer. To obtain tissue samples, a device is inserted in a nostril and scraped gently against the inside of the nose. * Echocardiography: This ultrasound test of the heart uses sound waves to obtain pictures of the heart. A small wand with a warm clear gel is moved around the chest to obtain the images. * Abdominal ultrasound: This ultrasound test of the heart uses sound waves to obtain pictures of the abdominal organs. A small wand with a warm clear gel is moved around the abdomen to obtain the images....

Conditions

• Ciliary Dyskinesia, Primary
• Kartagener Syndrome
• Congenital Heart Defects
• Situs Inversus

Eligibility

Study Summary

Feasibility study to understand and gain preliminary information on tolerability and palatability of an oral nutritional supplement gel in a clinical Primary Ciliary Dyskinesia population. To determine if dietary intake is affected by the consumption of the nutritional supplement. Explore possible future outcome measures that could be important in determining impact of this nutritional intervention on this patient group. Participants will be provided with the gel supplements and alongside will have other standard and non standard care measures assessed lung function (FEV1%) number of exacerbation's during study period vitamin D status Bio impedance analysis (BIA) skin-fold measures (e.g. Tricep Skin-fold (TSF) Mid upper arm circumference (MUAC) Handgrip strength (HGS) quality of life measures 6-minute walking tests. Hypothesis Patients with PCD can successfully consume 2 gel supplements per day for a period of 3 months with no effect on dietary intake.

Conditions

• Primary Ciliary Dyskinesia

Interventions

• QD-27

Eligibility

Inclusion Criteria

• * People aged 17 or over with a confirmed diagnosis of Primary ciliary dyskinesia PCD (nasal brushings)
• * People who attend the Leeds Regional PCD Clinics
• * People who have capacity to give informed consent

Exclusion Criteria

• * People who are pregnant
• * Those with existing co-morbidities such as malignancy
• * People with connective tissue disorders and immunoglobulin deficiencies
• * People with renal insufficiency r

Study Summary

This is a study evaluating the utility of current Primary Ciliary Dyskinesia (PCD) diagnostic tests, including nasal nitric oxide testing.

Conditions

• Primary Ciliary Dyskinesia

Interventions

• nNO testing

Eligibility

Inclusion Criteria

• * Referred to center for PCD diagnosis considerations
• * Ability to perform study procedures
• * Age greater than 2 years of age

Exclusion Criteria

• * Age less than 2 years of age Inability to perform informed consent

Study Summary

To evaluate the safety and efficacy of treatment with VX-371 with and without ivacaftor, and the effect of VX-371 with and without ivacaftor on quality of life (QOL) in subjects with primary ciliary dyskinesia (PCD).

Conditions

• Primary Ciliary Dyskinesia

Interventions

• VX-371
• Hypertonic Saline
• Placebo (0.17% saline)
• VX-371 + HS
• Ivacaftor

Eligibility

Inclusion Criteria

• * The subject must have evidence supportive of a PCD diagnosis.
• * Subjects with percent predicted FEV1 of ≥40 to \<90 percentage points
• * Non-smoker for at least 90 days prior to the Screening Visit and less than a 5 pack-year lifetime history of smoking
• * Stable regimen of medications and chest physiotherapy for the 28 days prior to Day 1
• * If currently using daily inhaled HS, must be able to discontinue its use for the duration of the study.
• * If taking daily chronic or chronic cycling antibiotics, has been on a consistent regimen for at least 4 months prior to the Screening Visit.
• * Clinically stable (as deemed by the investigator) for at least 14 days prior to the Screening Visit
• * Female subjects of childbearing potential must have a negative serum pregnancy test at the Screening Visit. Subjects of childbearing potential and who are sexually active must meet the contraception requirements.

Exclusion Criteria

• * Diagnosis of CF based on results of sweat chloride or nasal potential difference (NPD) tests or presence of 2 CF-causing mutations in CFTR gene.
• * History of any organ transplantation or lung resection or chest wall surgery.
• * Significant congenital heart defects, other than a laterality defect, at the discretion of the investigator
• * Diagnosis of Cri du chat syndrome (chromosome 5p deletion syndrome).
• * Inability to withhold short-acting bronchodilator use for 4 hours prior to clinic visit and long-acting bronchodilator use the night before the first and last clinic visit of each treatment period.
• * Use of diuretics (including amiloride) or renin-angiotensin antihypertensive drugs
• * Symptoms of acute upper or lower respiratory tract infection, acute pulmonary exacerbation, or treatment or was treated with systemic antibiotics for ear or sinus disease within 28 days before Day 1 (topical otic antibiotics allowed).
• * History of significant intolerance to inhaled HS
• * Pregnant and/or nursing females
• * Any clinically significant laboratory abnormalities
• * History of chronic B. cepacia complex or M. abscessus or M. avium
• * Surgery that required general anesthesia and hospitalization within 3 months of Day 1
• * In addition to the exclusion criteria above, subjects who participate in Part B and meet any of the following exclusion criteria will not be eligible to continue into Part B
• * Unable to swallow tablets.
• * Concomitant use of strong or moderate inhibitors or inducers of cytochrome P450 (CYP) 3A, including consumption of certain herbal medications (e.g., St. John's Wort), and grapefruit/grapefruit juice.
• * Known hypersensitivity to ivacaftor.

Locations

Study Summary

Primary Ciliary Dyskinesias (PCD) are rare, autosomal recessive respiratory diseases, due to a defect in mucociliary clearance linked to abnormalities in the structure and/or function of the cilia. The variety of ciliary abnormalities identified reflects the genetic heterogeneity of PCDs. The thirty or so genes currently implicated explain the pathology in about half of the patients. PCDs are characterized by recurrent infections of the upper (rhinosinusitis) and lower (bronchitis) airways, beginning in early childhood and progressing respectively to nasal polyposis and bronchial dilatation. In half of the cases, there is a lateralization defect of the organs (situs inversus) corresponding to Kartagener's syndrome. There is more frequent infertility in men (immobility of spermatozoa) than in women (miscarriages and tubal pregnancies). About a third of patients progress to respiratory failure. The identification of predictive factors of severity, specific to PCDs, would improve patient care. It is also important to assess the quality of life of patients with PCD, particularly at the ENT level. Data from prevalent patients are currently integrated into three separate and complementary databases: the "e-RespiRare" database, the "DCP Cils" database and the "DCP genes" database. The first step is therefore to constitute the RaDiCo-DCP database which will include data from prevalent and incident patients whose diagnosis of PCD is certain. The cohort aims to improve the routine care of PCD patients, in particular by highlighting predictive factors of severity, allowing early and personalized care, to assess the social impact (quality of life) and medical conditions of ENT impairment, as well as adult infertility, to finely characterize the ciliary phenotype. The study also aims to search for new DCP genes and to allow genotype/phenotype correlation studies.

Conditions

• Primary Ciliary Dyskinesia

Eligibility

Inclusion Criteria

• * Patient fulfilling at least one of the following criteria for PCD confirmed diagnosis: Kartagener's syndrome and/or specific anomaly of the ciliary ultrastructure and/or an unambiguous mutation in a PCD gene
• * Having at least one annual follow-up visit
• Non-inclusion Criteria:
• * Patients with an unconfirmed diagnosis of PCD
• * Patients with an evolving concomitant pathology that may interfere with the assessment of PCD-related manifestations

Study Summary

The aim of this study is to compare the oral health findings, salivary parameters and pediatric oral health related quality of life of children with Primary Ciliary Dyskinesia (PCD) with healthy children

Conditions

• Primary Ciliary Dyskinesia
• Caries,Dental
• Quality of Life
• Saliva Altered
• Erosion, Dental Enamel

Interventions

• physical and chemical methods
• biochemical methods
• Oral Findings
• Pediatric Oral Health Quality of Life

Eligibility

Inclusion Criteria

• * Not having any systemic disease.
• * Not being on any regular medication.

Exclusion Criteria

• * Having any systemic disease.
• * Being on any regular medication.

Study Summary

Primary ciliary dyskinesia (PCD) is a rare disease, caused by impairment of the motile cilia. Patients present with chronic upper and lower respiratory tract infections. The therapy is mainly supportive and based on that of cystic fibrosis. Chest physiotherapy is one of the cornerstones of the therapy, however the influence of chest physiotherapy on lung function (short term and long term) is not clear. For interpretation of longitudinal lung function data it is important to examine the short time effect of chest physiotherapy. We hypothesize that a session of chest physiotherapy improves lung function and that thus lung function tests must be performed in a standardized way.

Conditions

• Primary Ciliary Dyskinesia

Interventions

• Chest physiotherapy

Eligibility

Inclusion Criteria

• * Primary ciliary dyskinesia
• * able to perform spirometry and MBW (\>6 years)

Exclusion Criteria

• * acute exacerbation

Study Summary

Asthma is a major health problem worldwide. The measurement of fractional exhaled nitric oxide (FENO) has been established as a valuable non invasive and simple tool in the diagnosis of asthma and may also act as a useful surrogate inflammatory marker on which to base treatment decisions in asthma management algorithms. The measurement is useful also in other respiratory diseases. Current methods of measuring FENO include on line measurements by heavy duty expensive analyzers which are not widely and easily available. Off line measurements of breath samples which can be analysed later may be a simple solution. We hypothesize tha toff line measurements of NO will be as reliable and valid as those measured on-line

Conditions

• Asthma
• Primary Ciliary Dyskinesia

Eligibility

Inclusion Criteria

• * Volunteer to participate
• * Filed a short health questionnaire

Exclusion Criteria

• * None

Study Summary

Primary ciliary dyskinesia (PCD), also known as Kartagener syndrome, is a genetic disorder of the cilia, which are microscopic hair-like cells. Cilia work to keep the respiratory system clean by moving mucus that contains debris to the large airways, where it can be coughed out. People with PCD have cilia that do not move properly and therefore are not effective in cleaning the respiratory system. This study will determine when PCD starts and how it changes over time, specifically in terms of how well the lungs work, what germs grow in lung secretions, and how the lungs look on computed tomography (CT) scans.

Conditions

• Kartagener Syndrome

Eligibility

Inclusion Criteria

• * Younger than 5 years of age
• * Diagnosis of PCD or probable PCD based on criteria listed above
• * Parent or legal guardian willing to give informed consent

Exclusion Criteria

• * Unable to attend follow-up appointments
• * History of lung transplant
• * Any co-existing severe diseases that may have significant impact on lung function, respiratory infections, or overall health status (i.e., severe congenital heart disease, severe scoliosis, AIDS, cancer, or end-stage kidney disease)

Study Summary

Decreased pulmonary function, peripheral muscle strength, and exercise capacity were reported in primary ciliary dyskinesia (PCD) in recent studies. We aimed to investigate the data conducted between 10 July 2015 and 10 January 2015 of pulmonary function, respiratory muscle strength, exercise capacity, physical fitness, and activities of daily living (ADL) in PCD and healthy counterparts retrospectively at the first stage of the study and the effects of inspiratory muscle training on pulmonary function, respiratory muscle strength, and exercise capacity in PCD patients with decreased inspiratory muscle strength from the database recorded between 10 July 2015 and 10 January 2015 retrospectively at the second stage of the study.

Conditions

• Primary Ciliary Dyskinesia
• Kartagener Syndrome
• Immotile Cilia Syndrome

Interventions

• Data Collection
• Data Collection

Eligibility

Inclusion Criteria

• * Clinically stable
• * Being able to cooperate with the assessments
• * Not having any orthopedic, or neurological problems

Exclusion Criteria

• * Not being clinically stable
• * Not being able to cooperate with the assessments
• * Having any orthopedic, or neurological problems

Study Summary

This project consists of a psychological intervention in patients and their families with different chronic diseases in order to carry out a comparative study between medical pathologies to know which are the protective or risk variables for the adaptation to the disease.

Conditions

• Type 1 Diabetes
• Allergic Rhinitis
• Allergic Asthma
• Asthma
• Short Stature
• Food Allergy
• Atopic Dermatitis
• Rhinoconjunctivitis
• Cystic Fibrosis
• Primary Ciliary Dyskinesia
• Pulmonary Disease

Interventions

• Ten Vida (10Vida)

Eligibility

Inclusion Criteria

• * Diagnosis at least 6 months.
• * To have signed the informed consent.

Exclusion Criteria

• * No previous psychological diagnosis.
• * Attention Deficit Hyperactivity Disorder(ADHD), epilepsy or brain tumor
• * Infant cerebral palsy
• * Not understanding the Spanish language

Study Summary

This is a multi-centre, single visit clinical investigation involving patients with known PCD vs. age matched healthy volunteers. This study involves 1 visit which will last one (1) to two (2) hours. Participants (and parent as applicable) will be asked for their consent to participate in the study. A brief medical history will be recorded, including information such as age, gender, height, weight, race, current medications and living environment. If the participant is a PCD patient, they will also be asked about their disease history. Prior to performing the nasal measurements, participants will receive instructions from study personnel and have the opportunity to practice. All participants will have a brief nasal exam and will also have to blow their nose before starting the measurements. Participants will be asked to perform nasal nitric oxide measurements using the tidal breathing method followed by the velum closed with expiration against resistance method. The primary objective is to determine the feasibility and capability of the NIOX VERO to discriminate participants with PCD from those that are healthy. Information collected in this study will help researchers understand more about the diagnosis of and identification of patients with PCD.

Conditions

• PCD

Eligibility

Inclusion Criteria

• 1. Male and female patients 5 years and older.
• 2. Anatomically, is able to complete the nasal NO measurements in both nostrils.
• 3. Cohort 1 - PCD Patients: Patients must have a confirmed diagnosis of PCD from one of the PCD diagnostic centres based on clinical phenotype PLUS diagnosis made by at least 1 of the following (the specifics about how diagnosis was made must be documented in their medical file):
• * A nasal biopsy or scraping showing a hallmark PCD defect such as, an outer (+/- inner) dynein arm defect, microtubule defect, or
• * A genetic test positive for bi-alleilic mutations in a known PCD-causing gene associated with the diagnosis of PCD (e.g., ARMC4, C21orf59, CCDC39, CCDC40, CCDC65, CCDC164, CCDC103, CCDC114, CCDC151, CCNO, DNAAF1 (LRRC50), DNAAF2 (KTU), DNAAF3, DNAH5, DNAH11, DNAI1, DNAI2, DNAL1, DYX1C1, HEATR2, HYDIN, LRRC6, MCIDAS, NME8 (TXNDC3), ODA/IDA, OFD1, RPGR, RSPH3, RSPH4A, RSPH9, SPAG1, ZMYND10), or
• * EU Centres Only: A low nasal NO (determined by a chemiluminescent analyser) plus either:
• * at least 2 separate occasions with 'hallmark' changes on high-speed video microscopy, or
• * demonstration of mislocalisation of ciliary proteins by immunofluorescence microscopy.
• 4. Cohort 2 - Healthy Patients: Healthy, non-atopic, non-smoking patients (defined as patient with no airway or immune problems, no recent significant injury, no systemic infection, no systemic inflammation, no allergies or asthma).

Exclusion Criteria

• 1. Currently smokes or it has been less than 6 months from quitting.
• 2. Has had a nose bleed within the past 2 weeks.
• 3. Has acute respiratory symptoms or signs of an upper or lower respiratory tract infection.
• 4. Use of nasal medication as described below:
• * Xolair ≤180 days prior to nNO measurement
• * Oral or Systemic Corticosteroids ≤30 days prior to nNO measurement
• * Inhaled, nebulized, or intranasal corticosteroids ≤30 days prior to nNO measurement
• * Nasal or oral decongestants or antihistamines ≤14 days prior to nNO measurement
• * Leukotriene receptor antagonists ≤30 days prior to nNO measurement
• 5. Has an obstruction or anatomy that prevents a nasal measurement from being performed (as confirmed by simple visual inspection by the Investigator).
• 6. Has Cystic Fibrosis.
• 7. Has a documented primary or acquired immunodeficiency.
• 8. Is undergoing treatment with NO-releasing drugs (such as nitrates or molsidomine).
• 9. Has had food or beverage intake (other than water) or has participated in strenuous exercise within 1 hour of nasal NO measurement
• 10. Is unwilling or unable to provide consent to participate (self, parent or legal guardian).
• 11. PCD Patients Only: Has mutations with RSPH1 since nasal NO may not be low in these patients.
• 12. PCD Patients Only: Has not had a standard clinical evaluation to address other potential causes of chronic oto-sino- pulmonary disease.
• 13. Healthy Patients Only: Atopy or the presence of any of the following: a recent significant injury (i.e., within 1-2 weeks), systemic inflammation, airway or immune problem, asthma or allergies.
• 14. In the US only: Patients may not be related to a member of the Study Personnel.

Study Summary

The individuals with primary ciliary dyskinesia (PCD) have lower aerobic fitness and anaerobic performance than healthy individuals. Cardiopulmonary exercise test (CPET) provides an integrated assessment of integrative exercise responses involving the pulmonary, cardiovascular, hematopoietic, neuropsychological, and skeletal muscle systems that are not adequately reflected by measurement of the function of organ systems. Maximum oxygen consumption is measured by performing gas exchange analysis with CPET, offering an objective measure of cardiorespiratory fitness. The six-minute walk test (6MWT) and the shuttle walk test (SWT) are field tests that produce oxygen consumption results similar to those during CPET. There is a need to determine the physiological responses to CPET, SWT and 6MWT in individuals with PCD. Additionally, the physiological responses of individuals with PCD to different exercise tests will be compared with the responses of healthy individuals. Low aerobic capacity in individuals with PCD may affect the physical, emotional, and social lives of individuals. This influence may cause a decrease in the quality of life of individuals with PCD. The relationship between exercise capacity and quality of life in individuals with PSD will be investigated with this study.

Conditions

• Primary Ciliary Dyskinesia

Interventions

• No intervention

Eligibility

Inclusion Criteria

• * Having been diagnosed with PCD in the Pediatrics Department, Pediatric Chest Diseases Unit of Hacettepe University Faculty of Medicine and being routinely referred to Hacettepe University, Faculty of Physical Therapy and Rehabilitation, Cardiopulmonary Rehabilitation Unit for physiotherapy applications and pulmonary rehabilitation program,
• * Being clinically stable,
• * Being between 8-18 years old,
• * Having a forced expiratory volume in the first second (FEV1) ≥ 40%,
• The healthy group will be composed of individuals who do not have any known disease and volunteer to participate in the study. For healthy individuals, volunteers from acquaintances and/or relatives of the researchers will be included in the study.

Exclusion Criteria

• * Having unstable clinical condition
• * Having severe neuromuscular and musculoskeletal problems,
• * Having any congenital heart diseases other than situs inversus,
• * Unable to cooperate

Study Summary

Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterized by impaired airway mucociliary clearance leading to recurrent respiratory infections, bronchiectasis and eventually respiratory insufficiency. Diagnosis of PCD is difficult and relies on complex methods which are not widely available (1). Nasal nitric oxide (nNO) is reduced in PCD patients as compared to normal subjects, and nNO measurement has been proposed as a non-invasive screening tool for PCD. However, nNO measurement techniques are not standardized and reference values are lacking (2, 3). The NIOX MINO is a handheld analyzer developed for the non-invasive measurement of exhaled NO (eNO) in asthmatics. Measurement of nNO with the NIOX MINO has been reported in only few studies (4-6), which mainly compared the NIOX MINO with others NO analyzers. However, no study attempted to establish reference values with the NIOX MINO in a large number of normal subjects. One critical issue in nNO measurement is to avoid contamination of nasal air by exhaled alveolar air during nNO sampling. This can be obtained by either breath holding, or by a breathing technique allowing soft palate closure during sampling, such as mouth breathing again resistance. However, as sampling times with the NIOX MINO are long (2 minutes at a flow of 2 ml/min, and 45 seconds at a flow of 5 ml/min), these techniques may be difficult to apply. In this pilot study, we will determine normal nNO values in 100 healthy men and women aged 20 to 70 years using 3 different breathing techniques: 1. breath holding during 45 seconds 2. mouth breathing through a fixed resistance (a straw), to create a small positive pressure in the oropharynx during expiration only 3. mouth breathing through a continuous positive airway pressure (CPAP) apparatus, which produces continuous soft palate closure during quiet spontaneous breathing, thus allowing long sampling times for nNO measurement. This study will allow: 1) to determine whether nNO can be reliably measured with the NIOX MINO in adult normal subjects, 2) to identify the most reproducible breathing technique, 3) to determine normal values of nNO as measured by the NIOX MINO, and 4) to explore possible differences between genders and age groups. References: 1. J.S.A. Lucas, W.T. Walker, C.E. Kuehni and R. Lazor. Primary ciliary dyskinesia. Eur Respir Mon. 2011; 54: 201-217. 2. ATS/ERS Recommendations for Standardized Procedures for the Online and Offline Measurement of Exhaled Lower Respiratory Nitric Oxide and Nasal Nitric Oxide, 2005. Am J Respir Crit Care Med 2005; 171: 912-30. 3. Marthin JK, Nielsen KG. Choice of nasal nitric oxide technique as first-line test for primary ciliary dyskinesia. Eur Respir J 2011; 37: 559-65. 4. Marthin JK, Nielsen KG. Hand-Held Tidal Breathing Nasal Nitric Oxide Measurement - A Promising Targeted Case-Finding Tool for the Diagnosis of Primary Ciliary Dyskinesia. PLoS ONE 2013; 8: e57262. 5. Weschta M, Deutschle T, Riechelmann H. Nasal fractional exhaled nitric oxide analysis with a novel hand-held device. Rhinology 2008; 46: 23-7. 6. Maniscalco M, Laurentiis G de, Weitzberg E, Lundberg JO, Sofia M. Validation study of nasal nitric oxide measurements using a hand-held electrochemical analyser. Eur J Clin Invest 2008; 38: 197-200.

Conditions

• Normal Values of Nasal Nitric Oxide in Healthy Adults

Eligibility

Inclusion Criteria

• * consent signed
• * adult healthy subjects

Exclusion Criteria

• * current smoker
• * history of asthma
• * history of acute or chronic sinusitis
• * history of nasal polyps
• * upper airway infection in the past 3 weeks
• * use of nasal corticosteroids in the past 3 weeks
• * cleft palate
• * history of uvulopharyngopalatoplasty
• * history of neuromuscular disorder
• * history of chronic respiratory disease, including cystic fibrosis and primary ciliary dyskinesia

Study Summary

1. Assessment of a high speed video camera with a green light source for the measurement of ciliary beat frequency (CBF) in the nasal airways of patients. 2. Assessments of the effect of drugs and other therapies on CBF using the study system. 3. Comparison of results with standard methods such as ciliary brush biopsies

Conditions

• Primary Ciliary Dyskinesia

Interventions

• CBF measurements

Eligibility

Inclusion Criteria

• * Patients referred for Ciliary Brush Biopsy

Exclusion Criteria

• * Active nasal bleeding