Scleroderma Registry

Systemic Sclerosis Clinical Trial

— Registry  

Official title:

Scleroderma Family Registry and DNA Repository

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT00074568
• Other study ID #: NIAMS-108
• Secondary ID: N01AR002251-000N
• Status: Completed
• Start date: September 2000
• Est. completion date: January 2022

Study information

• Verified date: September 2022
• Source: National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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).

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 5000
• Est. completion date: January 2022
• Est. primary completion date: January 2022
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 18 Years to 70 Years

Eligibility

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

Related Conditions & MeSH terms

• Scleroderma
• Scleroderma, Diffuse
• Scleroderma, Localized
• Scleroderma, Systemic
• Systemic Sclerosis

Locations

Country	Name	City	State
United States	University of Texas - Houston Medical School	Houston	Texas

Sponsors (2)

Lead Sponsor	Collaborator
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)	The University of Texas Health Science Center, Houston

Country where clinical trial is conducted

United States, 

References & Publications (3)

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

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

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Establish National registry of Scleroderma as resource for scleroderma scientific community		ongoing