RECRUITING

Role of Genetic Factors in the Development of Lung Disease

Conditions

Cystic Fibrosis Pulmonary Fibrosis Tuberous Sclerosis Asthma Pulmonary Sarcoidosis Genetic Polymorphism Nitric Oxide Synthesis Alpha 1-Antitrypsin Candidate Genes Lung Pathology Natural History Lung Disease

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Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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.

Official Title

Role of Genetic Factors in the Pathogenesis of Lung Disease

Quick Facts

Study Start:1996-09-13

Study Completion:N/A

Study Type:Not specified

Phase:Not Applicable

Enrollment:Not specified

Status:RECRUITING

Study ID

NCT00001532

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:2 Years to 90 Years

Sexes Eligible for Study:ALL

Accepts Healthy Volunteers:Yes

Standard Ages:CHILD, ADULT, OLDER_ADULT

Inclusion Criteria	Exclusion Criteria
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.	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. 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.

Inclusion Criteria

Exclusion Criteria

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.

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.
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

Study Contact

Tatyana A Worthy, R.N.

CONTACT

(301) 827-1376

worthyt@mail.nih.gov

Joel Moss, M.D.

CONTACT

(301) 496-1597

mossj@nhlbi.nih.gov

Principal Investigator

Joel Moss, M.D.

PRINCIPAL_INVESTIGATOR

National Heart, Lung, and Blood Institute (NHLBI)

Study Locations (Sites)

Suburban Hospital

Bethesda, Maryland, 20814

United States

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892

United States

Collaborators and Investigators

Sponsor: National Heart, Lung, and Blood Institute (NHLBI)

Joel Moss, M.D., PRINCIPAL_INVESTIGATOR, National Heart, Lung, and Blood Institute (NHLBI)

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date1996-09-13

Study Completion DateN/A

Study Record Updates

Study Start Date1996-09-13

Study Completion DateN/A

Terms related to this study

Keywords Provided by Researchers

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

Additional Relevant MeSH Terms

Cystic Fibrosis
Pulmonary Fibrosis
Tuberous Sclerosis
Asthma
Pulmonary Sarcoidosis