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Role of Genetic Factors in the Development of Lung Disease

This study is currently recruiting participants. (see Contacts and Locations)
Verified September 2014 by National Institutes of Health Clinical Center (CC)
Sponsor:
Collaborator:
Suburban Hospital
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( National Heart, Lung, and Blood Institute (NHLBI) )
ClinicalTrials.gov Identifier:
NCT00001532
First received: November 3, 1999
Last updated: November 11, 2014
Last verified: September 2014
  Purpose

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.


Condition
Cystic Fibrosis
Sarcoidosis
Tuberous Sclerosis
Asthma

Study Type: Observational
Official Title: Role of Genetic Factors in the Pathogenesis of Lung Disease

Resource links provided by NLM:


Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment: 3500
Study Start Date: June 1996
Detailed Description:

This study is designed to evaluate genetic mechanisms of lung disease by surveying polymorphic genes involved in respiratory function and examining gene expression in the lung cells of individuals with pulmonary disease (e.g., alpha 1-antitrypsin deficiency, asthma, chronic obstructive pulmonary disease, cystic fibrosis, sarcoidosis, history of infection, and genetic mutations consistent with lung pathology). Emphasis will be on defining the distribution of allelic variants of nitric oxide synthase, alpha 1-antitrypsin, and the cystic fibrosis transmembrane conductance regulator genes in patients and in age- and sex-matched healthy individuals in a control population.

  Eligibility

Ages Eligible for Study:   8 Years to 90 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
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, probable, 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.

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.

Because radiation exposure is not required, pregnant women are not excluded from the study.

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.

An exclusion criteria for participating in the x-ray portion of the study is pregnancy.

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.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00001532

Contacts
Contact: Mary Haughey, R.N. (301) 496-3632 mhaughey@nhlbi.nih.gov
Contact: Joel Moss, M.D. (301) 496-1597 mossj@nhlbi.nih.gov

Locations
United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL)    800-411-1222 ext TTY8664111010    prpl@mail.cc.nih.gov   
Suburban Hospital Recruiting
Bethesda, Maryland, United States, 20814
Sponsors and Collaborators
Suburban Hospital
Investigators
Principal Investigator: Joel Moss, M.D. National Heart, Lung, and Blood Institute (NHLBI)
  More Information

Additional Information:
Publications:
Responsible Party: National Institutes of Health Clinical Center (CC) ( National Heart, Lung, and Blood Institute (NHLBI) )
ClinicalTrials.gov Identifier: NCT00001532     History of Changes
Other Study ID Numbers: 960100, 96-H-0100
Study First Received: November 3, 1999
Last Updated: November 11, 2014
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Genetic Polymorphism
Nitric Oxide Synthase
Alpha 1-Antitrypsin
Candidate Genes
Lung Pathology
Asthma
Lung Disease
Cystic Fibrosis

Additional relevant MeSH terms:
Cystic Fibrosis
Fibrosis
Lung Diseases
Sarcoidosis
Tuberous Sclerosis
Congenital Abnormalities
Digestive System Diseases
Genetic Diseases, Inborn
Hamartoma
Heredodegenerative Disorders, Nervous System
Infant, Newborn, Diseases
Lymphatic Diseases
Lymphoproliferative Disorders
Malformations of Cortical Development
Neoplasms
Neoplasms, Multiple Primary
Neoplastic Syndromes, Hereditary
Nervous System Diseases
Nervous System Malformations
Neurocutaneous Syndromes
Neurodegenerative Diseases
Pancreatic Diseases
Pathologic Processes
Respiratory Tract Diseases

ClinicalTrials.gov processed this record on November 25, 2014