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This study investigates genetic disorders of the lung's natural clearance mechanism (mucociliary clearance) in the context of nontuberculous mycobacterial lung disease. It included patients with mycobacterial infections followed at the NIH. It is an observational (non-phase) study and has been completed.
The summary above is a plain-language rendering of the official record. The original English title is shown for reference.
Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.
* INCLUSION CRITERIA: Overview: Inclusion criteria reflect the two-fold purpose of this protocol. It is primarily intended to evaluate the cohort of patients followed at the NIH Clinical Center under Protocol 01-I-0202, Natural History, Genetics, Phenotype, and Treatment of Mycobacterial Infections, and in this regard, the inclusion criteria mirror those of that protocol. Secondly it is part of the multicenter collaborative protocol as a participating site in the Genetic Disorders of Mucociliary Clearance Consortium, one of the Rare Disease Clinical Consortia sponsored by the Office of Rare Diseases. There is a clear-cut need for geographically dispersed centers to have expertise in the diagnostic evaluation and treatment of patients with rare diseases of the airways, including patients with suspected PCD, non-classical or variant CF, and PHA. The 5 sites will perform rigorous diagnostic evaluations utilizing innovative, but standardized methods (SOPs contained in Manual of Operations). As a participating site in the Consortium, we will cast a broad net to include as many participants as feasible. This will include a multi-center standardized diagnostic evaluation and clinical evaluation, giving us a better chance to define the clinical spectrum of disease. The criteria for participants to enter this study mandates that each patient either be enrolled in the 01-I-0202, Natural History, Genetics, Phenotype, and Treatment of Mycobacterial Infections or related NIH Natural History Protocol, or if referred as part of the Consortium, have received a standard (current clinical practice) diagnostic evaluation that includes testing for asthma, severe gastroesophageal reflux and/or classic CF, prior to enrolling in the Consortium study. Healthy adult control participants will be enrolled for comparison assessment of noninvasive nasal nitric oxide and nasal potential difference measurements only. The health status of these control participants will be assessed with the standardized clinical history, family history, physical exam including height and weight, vital signs, oximetry, and spirometry measurements. To enter the study, individuals with a suspected mucociliary clearance defect (n=100) must be age 2 years or older and meet one of the 4 following profiles: 1. Have known or suspected nontuberculous mycobacterial lung disease and enrolled in Protocol 01-I-0202, Natural History, Genetics, Phenotype, and Treatment of Mycobacterial Infections. 2. Have high suspicion for the diagnosis of PCD, based on ciliary ultrastructural changes on EM (if performed elsewhere prior to referral) or clinical features (chronic sinopulmonary disease, chronic otitis media, history of neonatal respiratory distress or situs inversus), or PCD in a sibling and one of the clinical features of PCD. 3. Have chronic sino-pulmonary disease with clinical features that overlap with variant CF and PCD, but with diagnostic tests to rule out classical CF (sweat Cl- testing and CF gene mutation screening). This may include patients with other known immune deficiencies such as chronic granulomatous disease followed on NIH natural history protocols. 4. Known or suspected PHA (or variant PHA), which might include elevated (or borderline) sweat Cl- values. To enter the study as a healthy control (n=25), individuals must be age 18 or older and free of any known disease, chronic medical conditions, family history of cystic fibrosis or primary ciliary dyskinesia, or any cognitive impairment or significant disability that might preclude voluntary consent or the ability to safely comply with the instructions or sit through the testing. EXCLUSION CRITERIA: Persons who cannot be evaluated at the Clinical Center or who have severe cognitive impairment or other severe disability that precludes the ability to understand instructions or sit/lie still for the evaluation will be excluded. Certain conditions may preclude specific procedures included in the protocol, but may still allow pertinent parts of this diagnostic evaluation. These conditions/procedures may include: pregnancy/Chest PA/Lat x-ray; allergy to pilocarpine /sweat testing. For reversible conditions such as acute upper airway infection, significant epistaxis within the prior week (not related to #2 below), or lower airway infection with uncontrollable coughing, the participant may need to be rescheduled upon resolution. For nasal nitric oxide and nasal potential difference measurements or nasal mucosal scrape biopsies: 1. Anatomic abnormality of the nose or sinuses (e.g. complete sinus blockage or turbinatectomy) that precludes either the measurement of nasal nitric oxide or nasal potential difference. 2. A severe bleeding diathesis or condition such as hereditary hemorrhagic telangiectasia syndrome that may predispose to significant nasal bleeding or result in severely excoriated nasal mucosa. 3. Inability to sit still for up to 15 minutes while the nasal catheters are held on the mucosal surface for transepithelial potential difference measurements. This would include the presence of acute or chronic lower respiratory tract infection that results in uncontrollable coughing. 4. Diffuse skin condition that would preclude placement of the subcutaneous reference electrode (butterfly needle) for nasal PD measurement.