Scleroderma Registry (Registry)

• ClinicalTrials.gov Identifier: NCT00074568
• Recruitment Status: Recruiting
• First Posted: December 17, 2003
• Last Update Posted: September 29, 2020
• Sponsor: National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
• Collaborator: The University of Texas Health Science Center, Houston
• Information provided by (Responsible Party): National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)

Study Description

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 Design

• 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

Groups and Cohorts

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

Outcome Measures

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

Eligibility Criteria

• 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

Contacts and Locations

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

More Information

Publications:

Mayes MD, Giannini EH, Pachman LM, Buyon JP, Fleckman P. Connective tissue disease registries. Arthritis Rheum. 1997 Sep;40(9):1556-9. Review.

Mayes MD. The establishment and utility of a population-based registry to understand the epidemiology of systemic sclerosis. Curr Rheumatol Rep. 2000 Dec;2(6):512-6. Review.

Mayes MD. Scleroderma epidemiology. Rheum Dis Clin North Am. 2003 May;29(2):239-54. Review.

• Responsible Party: National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
• ClinicalTrials.gov Identifier: NCT00074568
• Other Study ID Numbers: NIAMS-108; N01AR002251-000 ( U.S. NIH Grant/Contract ); NO1-AR-0-2251
• First Posted: December 17, 2003
• Last Update Posted: September 29, 2020
• Last Verified: November 2019

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