Houston, Texas 77030


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 summary:

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.


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 is Available At:

Original ID:




Secondary ID:


Study Acronym:


Brief Title:

Scleroderma Registry

Official Title:

Scleroderma Family Registry and DNA Repository

Overall Status:


Study Phase:




Minimum Age:

18 Years

Maximum Age:

70 Years

Quick Facts

Healthy Volunteers
Oversight Has DMC
Study Is FDA Regulated
Study Is Section 801
Has Expanded Access

Study Source:

National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)

Oversight Authority:

United States: Federal Government

Reasons Why Stopped:

Study Type:


Study Design:

Observational Model: Case Control, Time Perspectiv

Number of Arms:


Number of Groups:


Total Enrollment:


Enrollment Type:


Overall Contact Information

Official Name:Maureen D. Mayes, MD, MPH
Principal Investigator
The University of Texas Health Science Center, Houston
Primary Contact:Jason Anderson

Study Dates

Start Date:September 2000
Primary Completion Date:January 2022
Primary Completion Type:Anticipated
Verification Date:January 2016
Last Changed Date:January 4, 2016
First Received Date:December 16, 2003

Study Outcomes

Outcome Type:Primary Outcome
Measure:Establish National registry of Scleroderma as resource for scleroderma scientific community
Time Frame:ongoing
Safety Issues:False

Study Interventions

There are no available Study Interventions

Study Arms

Study Arm Type:Other
Arm Name:1
Description:Patients with scleroderma and their family members (parents, brothers, and sisters)
Study Arm Type:Other
Arm Name:2
Description:Healthy volunteers with no autoimmune disease and without a first-degree relative with a systemic autoimmune disease

Study Agencies

Agency Class:NIH
Agency Type:Lead Sponsor
Agency Name:National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Agency Class:Other
Agency Type:Collaborator
Agency Name:The University of Texas Health Science Center, Houston

Samples and Retentions

Sample Retention:Samples With DNA
Description: Serum, Plasma, DNA
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.
Sample Method:Non-Probability Sample

Study References

Reference Type:Reference
Citation:Mayes MD, Giannini EH, Pachman LM, Buyon JP, Fleckman P. Connective tissue disease registries. Arthritis Rheum. 1997 Sep;40(9):1556-9. Review.
Reference Type:Reference
Citation: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.
Reference Type:Reference
Citation:Mayes MD. Scleroderma epidemiology. Rheum Dis Clin North Am. 2003 May;29(2):239-54. Review.

Data Source: ClinicalTrials.gov

Date Processed: January 21, 2020

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