| Scleroderma Research Registries (MAIN MENU) | ||
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| Scleroderma Family Registry and DNA Repository | ||
| For Scleroderma Patients and Families in U.S. and Canada. | ||
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| Overview of Scleroderma Family Registry | ||
| Join as many research registries as you possibly can! | ||
| You may join all of the research registries and quality of life studies that you are eligible for. It's not like clinical trials, where you are limited to just one. | ||
| Disease Features, Disease Type, HLA Types, and Autoantibody Profile in 17 Multicase SSc Families. These findings suggest that the concordance for disease type and SSc specific autoantibodies is more common among SSc family members and the ACA positive limited SSc has a stronger genetic basis, and that the familial SSc does not represent a unique disease subset. Shervin Assassi. 1153/412 ACR 2006. (Also see: Causes of Scleroderma: Genetics ) | ||
| Candidate Genes Associated with Systemic Sclerosis (SSc): A Family-Based Genetic Association Study Using 116 SNPs. SPARC, FBN1, and TOP1 have been implicated as important in SSc in other studies. SLC22A4 has been associated with rheumatoid arthritis, and this gene as well as SLC9A3R1, and raptor have been associated with susceptibility to psoriasis. This is the largest genetic association study ever reported in systemic sclerosis. These data obtained from a general SSc population, confirm genetic associations previously reported in the Choctaw and our previous SSc family study and identify additional genetic associations not previously reported in this disease. Maureen D. Mayes. 1653/475. ACR 2004. (Also see: Causes of Scleroderma: Genetics) | ||
 Scleroderma Care and Research Journal (PDF) This journal for physicians focuses on elevating the standards of care for digital ischemia in scleroderma. Articles include The Genetics of Scleroderma: What Every Rheumatologist Should Know, as well as Digital Ulceration and Critical Digital Ischemia in Scleroderma. Journal of the Scleroderma Clinical Trials Consortium (SCTC) Vol 1, No. 2, Winter 2003 (Also see: Genetics and Scleroderma) | ||
| NIH Establishes National Family Registry for Scleroderma Goal is to Identify Susceptibility Genes. NIH 6-22-01. | ||
| See also: Scleroderma Research Registries ISN. | ||
| Scleroderma Family Registry | ||
| The Scleroderma Family Registry contains information including the the patient's name, gender, ethnic background, optional social security number, address, phone number, date of birth, as well as information such as date of diagnosis, type and severity of scleroderma, and results of some laboratory tests and x-rays. All information is kept confidential. | ||
| 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 conduct a nationwide search to identify and enroll multiplex families. 3. To collect and store DNA and serum on 350 singleton families and 150 multiplex families collecting samples from friends and in-laws as unrelated controls. 4. In collaboration with Dr. Frank Arnett and Dr. John Reveille of the University of Texas, Houston, and Dr. Li Jin at the University of Cincinnati to identify the genes conferring susceptibility to and expression of SSc using high resolution linkage maps consisting of highly polymorphic microsatellite markers and single nucleotide polymorphisms (SNPs) for disease linkage in both simplex and multiplex SSc families. To advertise the availability of the DNA Registry as a resource to the scientific community and to invite proposals from this group to study Scleroderma and other autoimmune disease related genes. | ||
| How to Enroll | ||
| To enroll, contact: Marilyn Perry Toll Free: 1-800-736-6864 | ||
| This page was posted at the request of Dr. Maureen Mayes, who is Principal Investigator of the Scleroderma Family Registry and DNA Repository. The text for this page was taken from their brochure entitled, "Scleroderma Family Registry and DNA Repository." Dr. Mayes is Professor of Internal Medicine in the Division of Rheumatology at the University of Texas Health Science Center at Houston Medical School. | ||
| Frequently Asked Questions | ||
| Do I have to come to UT-Houston 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 you to permit someone from the Registry to review your medical record at your doctor’s office or at a hospital where you were admitted in order to get information about laboratory tests 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 and have the blood drawn at your convenience. Simply place in the mail to return to us. The registry will prepay shipping costs. | ||
| 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. | ||
| Registry Funding | ||
| The National Institutes of Health (NIH) through the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) are providing the funds to establish the Registry for five years. | ||
| The Scleroderma Registry is a member of the Scleroderma Webmaster's Association | ||
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