OBJECTIVES: I. Determine whether defects in fibrillin-1 cellular processing are present in the tsk1 mouse model that carries a known FBN1 gene rearrangement and in a population of Choctaw Native American patients with systemic sclerosis who have a strong genetic predisposition to the disease. II. Determine the ultrastructural features of fibrillin-1 in these patients. III. Screen the FBN1 gene for mutations beginning at the regions homologous to the tsk1 duplication and latent transforming growth factor binding proteins in these patients and in an unaffected Choctaw control group. IV. Determine the correlation between fibrillin-1 abnormalities and clinical presentation, autoantibodies, and ethnicity.

Condition
Systemic Sclerosis

Further Study Details: 

Expected Total Enrollment:  80

PROTOCOL OUTLINE: Patients undergo punch skin biopsy obtained from the upper arm or back. Studies of fibrillin-1 synthesis and cellular processing, and FBN1 mutational analysis, linkage analysis, and genetic mapping are performed on the tissue samples. Patients from all major US ethnic groups (Caucasian, Hispanic, African Americans) will be recruited for the study in the next 2 years.

Genders Eligible for Study:  Both

Accepts Healthy Volunteers

Criteria

PROTOCOL ENTRY CRITERIA:

--Disease Characteristics--

Diagnosis of systemic sclerosis in accordance with the American College of Rheumatology preliminary criteria

Positive for systemic sclerosis antibodies (e.g., anticentromere, antitopo, antifibrillarin, or antiRNA polymerase)

Texas
      University of Texas- Houston Medical School, Houston,  Texas,  77030,  United States; Recruiting

Study chairs or principal investigators

Filemon Tan, M.D.,  Study Chair,  University of Texas   

Study ID Numbers:  NCRR-M01RR02558-0104; UT-H-HSC-MS-96-206
Record last reviewed:  December 2003
Last Updated:  October 13, 2004
Record first received:  October 4, 2000
ClinicalTrials.gov Identifier:  NCT00006393
Health Authority: United States: Federal Government
ClinicalTrials.gov processed this record on 2005-04-08