Scleroderma Registry (Registry)

Scleroderma Family Registry and DNA Repository

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).

Study Overview

• Status: Completed
• Conditions: 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
• Enrollment (Actual): 5000

Contacts and Locations

Study Locations

• United States
  • Texas
    • Houston, Texas, United States, 77030
      • University of Texas - Houston Medical School

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 16 years to 68 years (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• 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.

Description

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

Study Plan

How is the study designed?

Design Details

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

Number of groups / cohorts

2

Cohorts and Interventions

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

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Establish National registry of Scleroderma as resource for scleroderma scientific community	ongoing

Collaborators and Investigators

• Sponsor: National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
• Collaborators: The University of Texas Health Science Center, Houston
• Investigators: Principal Investigator: Maureen D. Mayes, MD, MPH, The University of Texas Health Science Center, Houston

Publications and helpful links

General Publications

• Mayes MD. Scleroderma epidemiology. Rheum Dis Clin North Am. 2003 May;29(2):239-54. doi: 10.1016/s0889-857x(03)00022-x.
• Mayes MD, Giannini EH, Pachman LM, Buyon JP, Fleckman P. Connective tissue disease registries. Arthritis Rheum. 1997 Sep;40(9):1556-9. doi: 10.1002/art.1780400903. No abstract available.
• 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. doi: 10.1007/s11926-000-0029-3.

Study record dates

Study Major Dates

• Study Start: September 1, 2000
• Primary Completion (Actual): January 1, 2022
• Study Completion (Actual): January 1, 2022

Study Registration Dates

• First Submitted: December 16, 2003
• First Submitted That Met QC Criteria: December 16, 2003
• First Posted (Estimate): December 17, 2003

Study Record Updates

• Last Update Posted (Actual): September 27, 2022
• Last Update Submitted That Met QC Criteria: September 26, 2022
• Last Verified: September 1, 2022

More Information

Terms related to this study

• Keywords: Family Study; Genetic Study; Transmission Dysequilibrium Testing; Genome Wide Scan
• Additional Relevant MeSH Terms: Skin Diseases; Connective Tissue Diseases; Scleroderma, Systemic; Scleroderma, Diffuse; Scleroderma, Localized
• Other Study ID Numbers: NIAMS-108; N01AR002251-000 (U.S. NIH Grant/Contract); NO1-AR-0-2251