Role of Genetic Factors in the Development of Lung Disease
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|ClinicalTrials.gov Identifier: NCT00001532|
Recruitment Status : Recruiting
First Posted : November 4, 1999
Last Update Posted : March 29, 2021
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
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.
|Condition or disease||Intervention/treatment||Phase|
|Cystic Fibrosis Pulmonary Fibrosis Tuberous Sclerosis Asthma Pulmonary Sarcoidosis||Device: Toshibia Aquilion ONE CT||Not Applicable|
|Study Type :||Interventional (Clinical Trial)|
|Estimated Enrollment :||3600 participants|
|Intervention Model:||Single Group Assignment|
|Masking:||None (Open Label)|
|Official Title:||Role of Genetic Factors in the Pathogenesis of Lung Disease|
|Actual Study Start Date :||September 13, 1996|
|Estimated Primary Completion Date :||August 1, 2025|
|Estimated Study Completion Date :||August 1, 2025|
No Intervention: Normal
comparison - of genetic samples
Experimental: Pulmonary Disease
AAT deficiency, genetic lung diseases; CF, TSC, COPD,sarcoidosis, Wegener' s granulomatosis, diabetes mellitus, asthma, TSC, pulmonary fibrosis and mycobacterium infections.
Device: Toshibia Aquilion ONE CT
The Toshiba Aquilion ONE CT system is currently being used for studies in both general CT radiology and CT cardiac imaging. One of the unique aspects of the Aquilion ONE CT system is its ability to acquire whole organ volume images in a single rotation by utilizing an x-ray detector that is configured as 320 detector rows with a 0.5 mm width, providing a z-axis coverage of 16 cm of anatomy. In line with the evolutionary changes to CT systems, the Aquilion ONE will be upgraded with new technology that will expand its capabilities. The changes being made to the Aquilion ONE will provide enhancements to image acquisition capabilities, reduce ionizing radiation dose, and improve subject access to the system. All of these features assist in enhancing the safety of the currently installed Aquilion ONE CT system.
- Evaluate Pulmonary Diseases [ Time Frame: on going ]This is a preliminary study aimed at evaluating the role of hereditary factors in the pathogenesis of AAT deficiency, genetic lung diseases; CF, TSC, COPD, sarcoidosis, Wegener's granulomatosis, diabetes mellitus, asthma, TSC, pulmonary fibrosis and mycobacterium infections. The study includes a case-control comparison of the distribution of genetic variants of nitric oxide synthases and other candidate genes involved in pulmonary function. Analysis of data and/or samples from imaging studies, pulmonary function tests, and other clinical evaluations; blood, urine, saliva, and cheek swab samples; circulating LAM cells; dermatological evaluation and skin biopsies
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00001532
|Contact: Nora M Quade||(301) email@example.com|
|Contact: Joel Moss, M.D.||(301) firstname.lastname@example.org|
|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 Office of Patient Recruitment (OPR) 800-411-1222 ext TTY8664111010 email@example.com|
|Principal Investigator:||Joel Moss, M.D.||National Heart, Lung, and Blood Institute (NHLBI)|