Systemic Sclerosis Clinical Trial
Official title:
Genetic Study of the FBN1 Gene and Fibrillin-1 Abnormalities in Choctaw Native Americans and Other Patients With Systemic Sclerosis
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.
Status | Recruiting |
Enrollment | 80 |
Est. completion date | |
Est. primary completion date | |
Accepts healthy volunteers | Accepts Healthy Volunteers |
Gender | Both |
Age group | N/A and older |
Eligibility |
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) |
Primary Purpose: Screening
Country | Name | City | State |
---|---|---|---|
United States | University of Texas- Houston Medical School | Houston | Texas |
Lead Sponsor | Collaborator |
---|---|
National Center for Research Resources (NCRR) | University of Texas |
United States,
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