Search / Trial NCT00001532

Role of Genetic Factors in the Development of Lung Disease

Launched by NATIONAL HEART, LUNG, AND BLOOD INSTITUTE (NHLBI) · Nov 3, 1999

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Trial Information

Current as of December 09, 2024

Recruiting

Keywords

Genetic Polymorphism Nitric Oxide Synthesis Alpha 1 Antitrypsin Candidate Genes Lung Pathology Natural History Lung Disease Cystic Fibrosis Asthma

ClinConnect Summary

This clinical trial is looking at how our genes might affect the development of various lung diseases, including cystic fibrosis, asthma, and pulmonary fibrosis. Researchers will examine lung cells from patients and healthy volunteers to identify any abnormal genes that could be linked to these conditions. By understanding the genetic factors involved, the study aims to improve how we diagnose and treat lung diseases.

To participate, individuals must have a diagnosed lung condition or be healthy volunteers without lung diseases. Specific criteria vary depending on the condition, but generally, participants will need to have symptoms or test results that suggest a lung issue. Those who join the study can expect to undergo genetic testing and may also have the option to take part in a sub-study comparing different types of CT scans to see which is better at detecting lung problems. This research is open to adults and children aged 9 and older, helping us gather valuable insights that could benefit future patients.

Gender

ALL

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.

Trial Officials

Joel Moss, M.D.

Principal Investigator

National Heart, Lung, and Blood Institute (NHLBI)

About National Heart, Lung, And Blood Institute (Nhlbi)

The National Heart, Lung, and Blood Institute (NHLBI) is a leading component of the National Institutes of Health (NIH), dedicated to advancing research and clinical trials focused on cardiovascular, pulmonary, and hematologic diseases. With a mission to improve public health through innovative research, the NHLBI supports a wide range of studies aimed at understanding, preventing, and treating heart and lung conditions. By collaborating with academic institutions, healthcare providers, and patient communities, the NHLBI strives to translate scientific discoveries into effective clinical practices, ultimately enhancing the quality of life for individuals affected by these critical health issues.

Locations

Bethesda, Maryland, United States

Bethesda, Maryland, United States

Bethesda, Maryland, United States

People applied

Timeline

First submit

Trial launched

Trial updated

Estimated completion

Not reported

Discussion 0

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