Genetic Study of the FBN1 Gene and Fibrillin-1 Abnormalities in Choctaw Native Americans and Other Patients With Systemic Sclerosis

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

80 participants

Study Classification

OBSERVATIONAL

Study Start Date

1998-07-31

Brief Summary

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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.

Detailed Description

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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.

Conditions

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Systemic Sclerosis

Keywords

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arthritis & connective tissue diseases rare disease systemic sclerosis

Eligibility Criteria

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Inclusion 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)

Minimum Eligible Age

0 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Principal Investigators

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Filemon Tan, M.D.

Role: STUDY_CHAIR

University of Texas

Locations

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University of Texas- Houston Medical School

Houston, Texas, United States

Site Status RECRUITING

Countries

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United States

Facility Contacts

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Filemon K. Tan

Role: primary

Other Identifiers

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UT-H-HSC-MS-96-206

Identifier Type: -

Identifier Source: secondary_id

NCRR-M01RR02558-0104