Identifying Shared Genetic Susceptibility Regions in Chronic Beryllium Disease and Sarcoidosis

NCT00560989 | Completed

• 3 other identifiers: 1382R21HL081766R21HL081766-01A2
• Study Type: observational
• Target: 400
• Locations: 1 country
• Sites: 1

Brief Summary

Granulomatous lung diseases are diseases in which inflamed clusters of white cells, known as granulomas, form in lung tissue. Chronic beryllium disease (CBD) and sarcoidosis are two granulomatous diseases that share similar clinical symptoms, physiological changes in the lungs, and immune responses to the disease. Genetic variations may make some people more susceptible to developing CBD or sarcoidosis. This study will identify common genetic regions associated with increased risk of developing the granulomatous diseases CBD and sarcoidosis.

Conditions

Sarcoidosis; Berylliosis

Keywords

Chronic Beryllium Disease; CBD; Beryllium; Genetic; Environmental

Outcome Measures

Primary Outcomes (1)

• Shared genetic regions associated with the risk of the granulomatous diseases CBD and sarcoidosis

  Measured at completion of genetic analysis

Secondary Outcomes (1)

• Genetic/chromosomal regions associated with CBD and sarcoidosis

  Measured at completion of genetic analysis

Study Arms (4)

1

CBD cases

2

Beryllium-exposed, non-diseased control subjects

3

Sarcoidosis cases

4

Sarcoidosis control subjects

Eligibility Criteria

• Age: 18 Years - 80 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

This study will use specimens from two well-established disease popultions: a CBD population previously recruited at the National Jewish Medical and Research Center and a sarcoidosis population derived from the previous NHLBI study, A Case-Control Etiologic Study of Sarcoidosis (ACCESS).

You may qualify if:

• Has previously participated in beryllium studies conducted by Dr. Lisa Maier
• Agrees to allow the use of personal medical records and genetic material for future research by study officials

You may not qualify if:

• Will not consent for use of DNA for research purposes or for storage
• Any beryllium or sarcoidosis DNA specimens without an optical density of 260/280 nm, ratio between 1.8 and 2.0, or with an insufficient quantity of DNA for analysis purposes

Sponsors & Collaborators

• National Jewish Health: lead
• National Heart, Lung, and Blood Institute (NHLBI): collaborator

Study Sites (1)

National Jewish Medical and Research Center

Denver, Colorado, 80206, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

DNA specimens

MeSH Terms

Conditions

Sarcoidosis; Berylliosis

Condition Hierarchy (Ancestors)

Lymphoproliferative Disorders; Lymphatic Diseases; Hemic and Lymphatic Diseases; Hypersensitivity, Delayed; Hypersensitivity; Immune System Diseases; Pneumoconiosis; Lung Diseases, Interstitial; Lung Diseases; Respiratory Tract Diseases; Lung Injury; Occupational Diseases

Study Officials

• Lisa A. Maier, MD, MSPH

  National Jewish Health

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER

Study Record Dates

• First Submitted: November 16, 2007
• First Posted: November 20, 2007
• Study Start: March 1, 2007
• Study Completion: March 1, 2007
• Last Updated: September 26, 2014

Record last verified: 2014-09

Locations

US (1)