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

NCT00006393 · Status: UNKNOWN · Type: OBSERVATIONAL · Enrollment: 80

Last updated 2005-06-24

No results posted yet for this study

Summary

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.

Conditions

Sponsors & Collaborators

  • University of Texas

    collaborator OTHER

  • National Center for Research Resources (NCRR)

    lead NIH

Principal Investigators

  • Filemon Tan, M.D. · University of Texas

Eligibility

Min Age
0 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
1998-07-31

Countries

  • United States

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00006393 on ClinicalTrials.gov