NIH Clinical Research Studies

Protocol Number: 96-H-0100

Active Accrual, Protocols Recruiting New Patients

Title:
Role of Genetic Factors in the Pathogenesis of Lung Disease
Number:
96-H-0100
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.

Sponsoring Institute:
National Heart, Lung and Blood Institute (NHLBI)
Recruitment Detail
Type: Active Accrual Of New Subjects
Gender: Male & Female
Referral Letter Required: Yes
Population Exclusion(s): None

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) symptoms consistent with pulmonary disease; (3) chest x-ray consistent with pulmonary disease; (4) pulmonary function tests consistent with pulmonary disease; (5) 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, pulmonary fibrosis, asthma and diabetes mellitus will be included in this protocol.

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.

EXCLUSION CRITERIA:

Exclusion criteria for all participants include: (1) age less than 18 or greater than 80 except for patients with cystic fibrosis; (2) positive serum test for human immunodeficiency virus; (3) positive serum test for hepatitis virus; and (4) inability to obtain reliable pulmonary function testing.

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.

Special Instructions:
This is a one to two day study. It does not include a bronchoscopy at the present time.
Keywords:
Genetic Polymorphism
Nitric Oxide Synthase
Alpha 1-Antitrypsin
Candidate Genes
Lung Pathology
Asthma
Recruitment Keywords:
Lung Disease
Cystic Fibrosis
Asthma
Conditions:
Cystic Fibrosis
Sarcoidosis
Tuberous Sclerosis
Asthma
Investigational Drug(s):
None
Investigational Device(s):
None

Contacts:
Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

Electronic Mail:prpl@mail.cc.nih.gov

Citations:
Major genetic mechanisms in pulmonary function

Cystic fibrosis

Clinical features and history of the destruc lung disease associated with alpha-1-antitrypsin deficiency of adults with pulmonary symptoms

Active Accrual, Protocols Recruiting New Patients

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