Primary ciliary dyskinesia (PCD) Genetic Diseases Primary ciliary dyskinesia (PCD)
Conditions
Interventions
There will be one study visit which will last one or two hours.
Participants will be asked basic background questions such as age, sex, height, weight, ethnicity (a group of people who
Sponsors
Aerocrine AB
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: All participants: 1. Aged 5 years or over 2. Anatomically, is able to complete the nasal NO measurements in both nostrils PCD patients: 1. 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): 1.1. A nasal biopsy or scraping showing a hallmark PCD defect such as, an outer (+/- inner) dynein arm defect, microtubule defect 1.2. 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) 1.3. A low nasal NO (determined by a chemiluminescent analyser) with either at least 2 separate occasions with ‘hallmark’ changes on high-speed video microscopy, or demonstration of mislocalisation of ciliary proteins by immunofluorescence microscopy (EU Centres Only) Healthy patients: 1. No airway or immune problems 2. No recent significant injury 3. No systemic infection 4. No systemic inflammation 5. No allergies or asthma
Exclusion criteria
Exclusion criteria: All participants: 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: 4.1. Xolair =180 days prior to nNO measurement 4.2. Oral or Systemic Corticosteroids =30 days prior to nNO measurement 4.3. Inhaled, nebulized, or intranasal corticosteroids =30 days prior to nNO measurement 4.4. Nasal or oral decongestants or antihistamines =14 days prior to nNO measurement 4.5. 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) PCD Patients: 1. Has mutations with RSPH1 since nasal NO may not be low in these patients 2. Has not had a standard clinical evaluation to address other potential causes of chronic oto-sino- pulmonary disease Healthy Patients: 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.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The concentration of nasal nitric oxide will be measured using the nasal adapter kit for the NIOX VERO during the study visit. | — |
Secondary
| Measure | Time frame |
|---|---|
| 1. The observed nasal nitric oxide results (ppb) 2. The proportion of participants able to successfully complete nNO measurements using the TB-nNO method 3. The proportion of participants able to successfully complete nNO measurements using the velum closed ER-nNO method 4. The proportion of participants able to successfully complete nNO measurements using both methods | — |
Countries
Denmark, France, Germany, Ireland, Italy, United Kingdom, United States of America
Contacts
Public ContactMargot Berko
Outcome results
None listed