What is the Scleroderma Family Registry and DNA Repository?
… and other Frequently Asked Questions

The Scleroderma Family Registry and DNA Repository is a research study established in September 2000, with funding from the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), a branch of the National Institutes of Health (NIH). The overall objective is to identify the genes that influence scleroderma. Patients diagnosed with Systemic Sclerosis (scleroderma) and normal, non-genetically related healthy controls will be included in the study.

What is the Purpose of the registry?

In order to accomplish this objective, the project has the following specific objectives:

  1. To determine the precise frequency that scleroderma occurs in more than one family member and to determine the frequency that other autoimmune diseases (like lupus) occur in families with at least one scleroderma case.
  2. To identify genes affecting the expression of SSc.
  3. To establish a repository of DNA and serum on 3000 patients and 3000 normal controls and to provide these samples as a resource to the scientific community to study scleroderma and related autoimmune diseases.
  4. To perform a Genome Wide Association Study on the patients samples.

How is The Scleroderma Family Registry and DNA Repository funded?

The National Institute of Arthritis and Musculoskeletal and Skin Diseases branch of the NIH has provided funding for the last 10 years to establish and maintain the Scleroderma Family Registry and DNA Repository.

How will the samples be utilized?

The samples will be utilized as follows:

  1. To identify genes that more commonly occurs in scleroderma patients than controls (spouses and friends of patients).
  2. Serum samples will be used to determine if auto-antibodies are present.
  3. To perform a Genome Wide Association Study (GWAS)to identify those genes most commonly associated with scleroderma.
  4. To perform sequencing of those genes identified in the GWAS.

How will privacy be protected?

All information provided to the registry will be kept confidential and all identifiers such as name or social security number will not be released in any context (including insurance providers). All participants provide a signed informed consent and The Health Insurance Portability and Accountability Act (HIPAA) of 1996. This study complies with NIH rules and regulations, regarding safety and confidentiality involving human subjects. In addition, the Committee for the Protection of Human Subjects, The University of Texas Health Science Center at Houston, has approved this study.

Do I have to come to UTHealth to be included in the Scleroderma Registry?

No, all you have to do is sign the consent form that we will mail to you and provide the information requested. We do ask that you sign a release of medical records to permit Registry personnel to review your medical chart from your doctor’s office or hospital in order to get information about your diagnosis, test results, and x-rays.

What if I live outside the Houston area, can I still be included in the Registry?

Yes, we will provide mailing kits to be taken to your doctor’s office to have the blood drawn at your convenience. Simply place in the return envelope and send to us. The registry will pay shipping and blood draw handling fees.

Will children be included?

Yes, we will also include children. A parent or guardian must sign the consent form for the child to be enrolled in the Registry.

Will the Registry provide new treatments for scleroderma?

No, the Registry will only collect blood and DNA samples.

How do I enroll?

You can enroll by calling the office or contacting us by e-mail:

Telephone: 713-500-7196
Email: sclerodermaregistry@uth.tmc.edu

For more contact information, please visit our contact page.