RecruitingNot Applicable

Role of Genetic Factors in the Development of Lung Disease

United States3,500 participantsStarted 1996-09-13

Plain-language summary

This study is designed to evaluate the genetics involved in the development of lung disease by surveying genes involved in the process of breathing and examining the genes in lung cells of patients with lung disease. The study will focus on defining the distribution of abnormal genes responsible for processes directly involved in different diseases affecting the lungs of patients and healthy volunteers. Optional CT Sub-study The standard CT scan will be compared to the low dose radiation CT scan for the 150 subjects enrolled in the sub-study to assess the variation between the two techniques. Specifically, the quantitative computer aided detection of lung CT abnormalities from LAM can be compared to assess whether low radiation dose CT exams is an alternative to conventional CT to monitor disease status. This optional sub-study will be offered to up to 100 adult subjects with lung disease and up to 50 children age 9 and older with CF. Children will not be enrolled in the optional CT sub-study unless they have had a standard CT scan for medical purposes to use in comparison. One additional low dose radiation CT scan of the chest may be done as part of this sub-study when these subjects have their next annual CT scan.

Who can participate

Age range

2 Years – 90 Years

Sex

ALL

See this in plain English?

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

Inclusion criteria

. symptoms consistent with pulmonary disease
. chest x-ray consistent with pulmonary disease
. pulmonary function tests consistent with pulmonary disease;
. smokers, defined as individuals who are current smokers (1 pack per day for at least 2 years) and nonsmokers, defined as never-smokers or ex-smokers who have not smoked for three or more years.

Exclusion criteria

. age less than 18 or greater than 90 except for NIH patients with diseases /disorders as described in this protocol (except cystic fibrosis, lymphangiomatosis or defects in ADP-ribosylation) who are 16 years of age or older, patients with cystic fibrosis who are over eight years of age, patients who are two years of age or older with lymphangiomatosis or a known defect in ADP-ribosylation, or who have a family member with a defect in ADP-ribosylation, or unless patient-specific IRB approval is obtained and;

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.

1Since this study is looking at hereditary factors in lung diseases like cystic fibrosis, pulmonary fibrosis, or sarcoidosis, could my specific diagnosis make me or my family members relevant candidates to discuss with the research team?
2Because this is listed as a Phase NA study focused on evaluating genetic factors rather than testing a new treatment, does participating involve any direct medical intervention, or is it more about genetic data collection and observation?
3If I or a family member joined this study, what kinds of genetic samples or tests would likely be involved, and are there any privacy or insurance-related risks I should think through before agreeing to genetic research?
4Would participating in this genetics study affect my ability to pursue standard treatments or other clinical trials for my lung condition at the same time?
5Given that this research is focused on understanding hereditary contributions rather than delivering a therapy, is there any direct medical benefit I might receive from joining, or is the value primarily for future patients and scientific knowledge?

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

evaluating the role of hereditary factor

Timeframe: 1 year

Trial details

NCT IDNCT00001532

SponsorNational Heart, Lung, and Blood Institute (NHLBI)

Sponsor typeNIH

Study typeOBSERVATIONAL

Contact for this trial

Tatyana A Worthy, R.N.

(301) 827-1376 worthyt@mail.nih.gov

View on ClinicalTrials.gov More Cystic Fibrosis trials