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Scleroderma Registry (Registry)

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ClinicalTrials.gov Identifier: NCT00074568
Recruitment Status : Recruiting
First Posted : December 17, 2003
Last Update Posted : January 6, 2016
Sponsor:
Collaborator:
The University of Texas Health Science Center, Houston
Information provided by (Responsible Party):
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)

Brief Summary:
Scleroderma is likely caused by a combination of factors, including an external trigger (infection or other exposure) and a genetic predisposition. The Scleroderma Registry will conduct genetic analyses for disease-related genes in patients with scleroderma and their family members (parents, brothers, and sisters).

Condition or disease
Systemic Sclerosis Scleroderma

Detailed Description:

Scleroderma refers to a group of diseases that involve the abnormal growth of connective tissue, which supports the skin and internal organs. Scleroderma can affect the skin, making it hard and tight; it can also damage the blood vessels and internal organs such as the heart, lungs, and kidneys. Estimates for the number of people in the United States with the systemic (body-wide) form of scleroderma range from 40,000 to 165,000. The number of people with all scleroderma-related disorders is between 250,000 and 992,500.

Researchers believe that several factors interact to produce scleroderma, including abnormal immune activity, potential environmental triggers, and genetic makeup. Scleroderma is not passed on from parents to child, but certain genes may make a person more likely to develop the disease. The goals of this project are to identify the genes that influence disease susceptibility and expression in systemic scleroderma and to establish a repository of DNA, plasma, and serum samples from single case scleroderma families, multicase families, and healthy unrelated volunteers for the use of researchers interested in studying this disease.

Participants in the Registry will have a phone interview regarding disease characteristics and family history. Participants will be sent a blood kit to get a blood sample drawn locally for shipment to the Registry lab. Blood samples will be made available (anonymously) for studies by researchers around the country. In some cases, participants will be asked to sign a release of medical information so that medical records can be obtained to verify the diagnosis.

As of May 2009, this study is no longer enrolling family members.


Study Type : Observational
Estimated Enrollment : 5000 participants
Observational Model: Case Control
Time Perspective: Prospective
Official Title: Scleroderma Family Registry and DNA Repository
Study Start Date : September 2000
Estimated Primary Completion Date : January 2022


Group/Cohort
1
Patients with scleroderma and their family members (parents, brothers, and sisters)
2
Healthy volunteers with no autoimmune disease and without a first-degree relative with a systemic autoimmune disease



Primary Outcome Measures :
  1. Establish National registry of Scleroderma as resource for scleroderma scientific community [ Time Frame: ongoing ]

Biospecimen Retention:   Samples With DNA
Serum, Plasma, DNA


Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years to 70 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population

Patients diagnosed with Systemic Sclerosis or family member of patients with systemic sclerosis

or

Healthy volunteer with no autoimmune disease and without a first degree relative with a systemic autoimmune disease.

Criteria

Inclusion Criteria

  • Diagnosis of systemic sclerosis or family members of patients with systemic sclerosis

Or

  • Healthy volunteer with no autoimmune disease and without a first-degree relative with a systemic autoimmune disease

Information from the National Library of Medicine

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): NCT00074568


Contacts
Contact: Jason Anderson 713-500-7196

Locations
United States, Texas
University of Texas - Houston Medical School Recruiting
Houston, Texas, United States, 77030
Contact: Jason Anderson    713-500-7196      
Principal Investigator: Maureen D. Mayes, MD, MPH         
Sub-Investigator: Frank C. Arnett, MD         
Sponsors and Collaborators
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
The University of Texas Health Science Center, Houston
Investigators
Principal Investigator: Maureen D. Mayes, MD, MPH The University of Texas Health Science Center, Houston

Additional Information:
Publications:
Responsible Party: National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
ClinicalTrials.gov Identifier: NCT00074568     History of Changes
Other Study ID Numbers: NIAMS-108
N01AR02251-000 ( U.S. NIH Grant/Contract )
NO1-AR-0-2251
First Posted: December 17, 2003    Key Record Dates
Last Update Posted: January 6, 2016
Last Verified: January 2016

Keywords provided by National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS):
Genetic Study
Transmission Dysequilibrium Testing
Genome Wide Scan
Family Study

Additional relevant MeSH terms:
Scleroderma, Systemic
Scleroderma, Diffuse
Scleroderma, Localized
Connective Tissue Diseases
Skin Diseases