CompletedNot Applicable

Genetic Disorders of Mucociliary Clearance in Nontuberculous Mycobacterial Lung Disease

United States87 participantsStarted 2006-10-17

Plain-language 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.)

Who can participate

Age range

2 Years – 65 Years

Sex

ALL

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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion criteria

. Have known or suspected nontuberculous mycobacterial lung disease and enrolled in Protocol 01-I-0202, Natural History, Genetics, Phenotype, and Treatment of Mycobacterial Infections.
. 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.
. 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.
. Known or suspected PHA (or variant PHA), which might include elevated (or borderline) sweat Cl- values.

Exclusion criteria

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1This study has already been completed — is there published data or findings from it that might be relevant to my diagnosis with a mucociliary clearance disorder like Primary Ciliary Dyskinesia or Nontuberculous Mycobacterial infection that you could share with me?
2Since this trial was focused on identifying genetic and structural defects in ciliary ultrastructure, would getting tested for ciliary ultrastructure abnormalities help clarify my diagnosis or change how you would approach my treatment?
3The study included several different conditions like Cystic Fibrosis, Primary Ciliary Dyskinesia, and Chronic Granulomatous Disease — how confident are you in my current diagnosis, and could any of these related conditions also explain my symptoms?
4Because this was a natural history and diagnostic study rather than a treatment trial, are there follow-up clinical trials testing actual treatments for mucociliary clearance disorders that I might be eligible for based on what studies like this one found?
5If I or a sibling have symptoms compatible with Primary Ciliary Dyskinesia, should we pursue genetic testing or ciliary ultrastructure evaluation as part of my care, and where would that testing be done?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

PCD compatible clinical phenotype or sibling with PCD, plus defect in ciliary ultrastructure

Timeframe: 6 years

Trial details

NCT IDNCT00368446

SponsorNational Heart, Lung, and Blood Institute (NHLBI)

Sponsor typeNIH

Study typeOBSERVATIONAL

Primary completion2012-10-01

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