Trial record 3 of 3 for:    "Berylliosis"

Identifying Shared Genetic Susceptibility Regions in Chronic Beryllium Disease and Sarcoidosis

This study has been completed.
Sponsor:
Collaborator:
Information provided by:
National Jewish Health
ClinicalTrials.gov Identifier:
NCT00560989
First received: November 16, 2007
Last updated: September 24, 2014
Last verified: September 2014
  Purpose

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.


Condition
Sarcoidosis
Berylliosis

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Retrospective
Official Title: Shared Genetic Susceptibility in CBD and Sarcoidosis

Resource links provided by NLM:


Further study details as provided by National Jewish Health:

Primary Outcome Measures:
  • Shared genetic regions associated with the risk of the granulomatous diseases CBD and sarcoidosis [ Time Frame: Measured at completion of genetic analysis ]

Secondary Outcome Measures:
  • Genetic/chromosomal regions associated with CBD and sarcoidosis [ Time Frame: Measured at completion of genetic analysis ]

Biospecimen Retention:   Samples With DNA

DNA specimens


Enrollment: 400
Study Start Date: March 2007
Study Completion Date: March 2007
Groups/Cohorts
1
CBD cases
2
Beryllium-exposed, non-diseased control subjects
3
Sarcoidosis cases
4
Sarcoidosis control subjects

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.

  Eligibility

Ages Eligible for Study:   18 Years to 80 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
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).

Criteria

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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00560989

Locations
United States, Colorado
National Jewish Medical and Research Center
Denver, Colorado, United States, 80206
Sponsors and Collaborators
National Jewish Health
Investigators
Principal Investigator: Lisa A. Maier, MD, MSPH National Jewish Health
  More Information

No publications provided

ClinicalTrials.gov Identifier: NCT00560989     History of Changes
Other Study ID Numbers: 1382, R21HL081766, R21 HL081766-01A2
Study First Received: November 16, 2007
Last Updated: September 24, 2014
Health Authority: United States: Federal Government

Keywords provided by National Jewish Health:
Chronic Beryllium Disease
CBD
Beryllium
Genetic
Environmental

Additional relevant MeSH terms:
Berylliosis
Disease Susceptibility
Sarcoidosis
Genetic Predisposition to Disease
Disease Attributes
Pathologic Processes
Lymphoproliferative Disorders
Lymphatic Diseases
Pneumoconiosis
Lung Diseases, Interstitial
Lung Diseases
Respiratory Tract Diseases
Lung Injury
Occupational Diseases

ClinicalTrials.gov processed this record on October 19, 2014