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Role of Genetic Factors in the Development of Lung Disease

Role of Genetic Factors in the Pathogenesis of Lung Disease

Who can join

As published by the study on ClinicalTrials.gov. "Not stated" means the study hasn't said — ask the study team.

Age
2 Years to 90 Years
Sex
All sexes
Healthy volunteers
Accepted
Compensation
Not stated

Other requirements are listed under Eligibility below. Only the study team can confirm whether you can join.

What to expect

No one can promise a trial will help you personally — that is what the research is trying to find out.

What participation involves

  • Procedures mentioned: CT scans

Only what the study's summary and detailed description on ClinicalTrials.gov say. Time periods may describe the whole study or a part of it — ask the study team what applies to you.

Show the study's own words
  • "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."
  • "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...."
Compensation
Not stated
  • Study-related exams and procedures are typically provided at no cost. This is how many trials work in general — confirm the details for this study with the study team.
  • Participants are monitored closely by the research team throughout the study.
  • Some participants may receive access to an investigational treatment, which is still being studied.
  • Your participation helps researchers learn whether this approach could help future patients.

About this study

In plain language

This study looks at genes that may play a role in lung disease. It includes people with certain lung diseases or other listed conditions, their relatives, and volunteers without lung disease. An optional part compares standard chest CT scans with scans that use less radiation.

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....

Compensation is read from the study's own description and may be missing — always confirm with the study team.

Eligibility

Who can join

  • People with AAT deficiency, an inherited condition, must have a confirmed high-risk type and signs of lung disease. People with COPD, a long-term lung disease, must also have signs on symptoms, chest X-rays, and breathing tests.
  • For the AAT and COPD groups, current smokers must have smoked 1 pack a day for at least 2 years. Nonsmokers must have never smoked or quit at least 3 years ago.
  • People with cystic fibrosis must have a known CF gene change or features of the disease. Children older than 8 may join.
  • People with certain other diagnosed conditions may join. These include sarcoidosis, mycobacterial infections, TSC, lung cysts, LAM, lymph system disorders, past collapsed lung, lung scarring, asthma, histiocytosis X, and diabetes. Relatives may also join.
  • Children age 2 or older may join if they have lymphangiomatosis, which affects lymph vessels. People with defects in ADP-ribosylation, a process in cells, may join; children age 2 or older may qualify if they have a defect or a family member with one.
  • Lung comparison volunteers must have no lung disease. Diabetes comparison volunteers must have no history of diabetes, heart artery disease, or lung disease.
  • Pregnant or nursing people may join, but cannot have certain study tests while pregnant or nursing.
  • The optional CT study is for adults with lung disease and children age 9 or older with cystic fibrosis. Children must already have a standard CT scan done for medical care to compare with the low-dose scan.

Who can't join

  • Most people cannot join if younger than 18 or older than 90. This rule applies to healthy volunteers, most relatives, and people with asthma enrolled at Suburban Hospital.
  • Age exceptions allow certain NIH patients age 16 or older, children older than 8 with cystic fibrosis, and children age 2 or older with the listed lymph vessel or cell-process conditions. A research review board may approve other individual exceptions.
  • You cannot join if reliable breathing test results cannot be obtained.
  • You cannot have bronchoscopy—a test using a thin scope to look inside the airways—if you are younger than 18 or older than 65.
  • You cannot have bronchoscopy if it would be unsafe, including because of advanced lung disease or another serious illness.
  • You cannot have bronchoscopy if you are allergic to numbing medicine such as lidocaine, or have had a breathing infection within the past 4 weeks.
  • You cannot have bronchoscopy while pregnant or nursing. Other tests also restricted during this time include breathing tests, the 6-minute walk test, fluid removal from around the lung, and imaging with contrast dye or radiation.

Simplified for readability. The official criteria below are what the study team uses.

Official eligibility criteria

* INCLUSION CRITERIA: Inclusion criteria for patients with AAT deficiency include: (1) Diagnosis of AAT with a confirmed phenotype considered in the high risk category; (2) Clinical phenotype consistent with potential genetic diseases and other genetic causes of lung diseases (3) symptoms consistent with pulmonary disease; (4) chest x-ray consistent with pulmonary disease; (5) pulmonary function tests consistent with pulmonary disease; (6) 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 quit smoking three or more years ago; Inclusion criteria for individuals with chronic obstructive pulmonary diseases include: 1. symptoms consistent with pulmonary disease 2. chest x-ray consistent with pulmonary disease 3. pulmonary function tests consistent with pulmonary disease; 4. 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. Inclusion criteria for patients with cystic fibrosis include a defined genetic mutation (i.e., any of the known variants of the CFTR gene, such as delta F508 allele) or a cystic fibrosis phenotype and clinical features consistent with this disease. Children with cystic fibrosis over eight years of age may be included. Patients with established diagnoses of sarcoidosis; mycobacterial infections; TSC (definite or possible); cystic lung diseases including genetic diseases; lymphangioleiomyomatosis or diseases associated with lymphatic disorders; history of pneumothorax; pulmonary fibrosis; asthma; histiocytosis X and diabetes mellitus will be included in this protocol. Relatives of patients may also be seen under this protocol. Children with lymphangiomatosis who are two years of age or older may be included. Participants with asthma may be enrolled at Suburban Hospital. Research volunteers in the pulmonary control group are defined as individuals with no pulmonary disease (e.g. rheumatoid arthritis without evidence of pulmonary disease). Research volunteers in the diabetes control group are defined as individuals with no history of diabetes, coronary artery disease, or pulmonary disease. Pregnant and or nursing women can be included in accordance with Federal Regulations at Subpart B of 45 CFR 46. Subjects who are pregnant and or nursing will be excluded from procedures during their pregnancy that are greater than minimal risk, until they are no longer pregnant and/or nursing. Procedures that will not be completed while the subject is pregnant and/or nursing including: PFTs, Six Minute Walk Test, thoracentesis, bronchoscopy, and measurements with imaging modalities requiring contrast or with radiation exposure such as Chest x-ray, CT scan, MRI. Allowing subjects to be included in the study may glean important information about individuals with uncommon pulmonary disease during and post pregnancy. Patients with abnormalities in ADP-ribosyltransferases, ADP-ribosyl-acceptor hydrolases, and their substrates. Children who are two years of age or older may be studied if they have a known defect in ADP-ribosylation, or if they have a family member with a defect in ADP-ribosylation and may be affected. EXCLUSION CRITERIA: Exclusion criteria for all participants include: 1. 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; 2. inability to obtain reliable pulmonary function testing. As clarification, healthy volunteers, relatives of patients (except as noted for an ADP-ribosylation defect), and asthmatic patients from Suburban Hospital will be excluded if less than 18 or greater than 90 years of age. Exclusion criteria for participating in the bronchoscopy portion of the study are: 1. presence of any contraindication for fiberoptic bronchoscopy, with lavage and/or bronchial brushing; 2. advanced stage of a pulmonary or a systemic illness such that the risk is judged to be significant even in the absence of a specific contraindication to the procedure 3. allergy to topical anesthetic (e.g., lidocaine) 4. current or recent respiratory infection (within the last 4 weeks) 5. pregnancy or lactation 6. age less than 18 or greater than 65.

Study sites (2)

MD