Identifying Shared Genetic Susceptibility Regions in Chronic Beryllium Disease and Sarcoidosis

September 24, 2014 updated by: National Jewish Health

Shared Genetic Susceptibility in CBD and Sarcoidosis

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.

Study Overview

Status

Completed

Conditions

Detailed Description

CBD and sarcoidosis are granulomatous lung diseases that are caused by an abnormal immune response. While CBD is known to develop from exposure to the industrial product beryllium, the cause of sarcoidosis remains undetermined. CBD occurs in 2 to 16% of people exposed to beryllium and varies in severity of symptoms. People with sarcoidosis often show very minor symptoms. However, certain variables have been associated with the more severe forms of disease. These variables include black race, onset over the age of 40, involvement of more than three affected organs, and presence of more serious lung disease. When serious symptoms of sarcoidosis occur, clinical and pathological appearances of CBD and sarcoidosis are often hard to distinguish. Symptoms common to both diseases include fever, chest pain, weight loss, night sweats, fatigue, and presence of granulomas on the lungs. The fact that the severity of both diseases varies greatly among those affected points to possible genetic involvement. The genetic basis being analyzed in this study begins with the similar immune responses in the development of both diseases, specifically involving human leukocyte antigen (HLA) gene products. The purpose of this study is to identify common genetic regions associated with increased risk of developing the granulomatous diseases CBD and sarcoidosis.

This study will utilize a novel technique, known as a genome-wide scan. The study will examine previously collected DNA samples from participants in a previous NIH study, A Case Control Etiologic Study of Sarcoidosis (ACCESS), and from participants with CBD recruited at the National Jewish Medical and Research Center. Using the genome scans, researchers will compare genetic regions of people with CBD versus people without CBD who have been exposed to beryllium. The same approach will be used to define genetic regions associated with sarcoidosis. Genome control methods will be used to account for population stratification in both the CBD and sarcoidosis populations. Researchers will compare data between diseased and healthy control groups and between CBD and sarcoidosis groups to identify shared genetic regions relevant to disease development. A second genome scan involving two larger populations of CBD and sarcoidosis cases and controls will be conducted to confirm the association of these regions with both diseases.

Study Type

Observational

Enrollment (Actual)

400

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Colorado
      • Denver, Colorado, United States, 80206
        • National Jewish Medical and Research Center

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.

Eligibility Criteria

Ages Eligible for Study

16 years to 78 years (Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

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).

Description

Inclusion Criteria:

  • 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

Exclusion Criteria:

  • 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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Case-Control
  • Time Perspectives: Retrospective

Cohorts and Interventions

Group / Cohort
1
CBD cases
2
Beryllium-exposed, non-diseased control subjects
3
Sarcoidosis cases
4
Sarcoidosis control subjects

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Shared genetic regions associated with the risk of the granulomatous diseases CBD and sarcoidosis
Time Frame: Measured at completion of genetic analysis
Measured at completion of genetic analysis

Secondary Outcome Measures

Outcome Measure
Time Frame
Genetic/chromosomal regions associated with CBD and sarcoidosis
Time Frame: Measured at completion of genetic analysis
Measured at completion of genetic analysis

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

National Jewish Health

Collaborators

National Heart, Lung, and Blood Institute (NHLBI)

Investigators

  • Principal Investigator: Lisa A. Maier, MD, MSPH, National Jewish Health

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 Major Dates

Study Start

March 1, 2007

Study Completion (Actual)

March 1, 2007

Study Registration Dates

First Submitted

November 16, 2007

First Submitted That Met QC Criteria

November 16, 2007

First Posted (Estimate)

November 20, 2007

Study Record Updates

Last Update Posted (Estimate)

September 26, 2014

Last Update Submitted That Met QC Criteria

September 24, 2014

Last Verified

September 1, 2014

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 1382
  • R21HL081766 (U.S. NIH Grant/Contract)
  • R21HL081766-01A2 (U.S. NIH Grant/Contract)

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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