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

Status unconfirmed

Conditions studied: Systemic Sclerosis

In brief

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.

Key facts

Study ID

NCT00006393

Run by

National Center for Research Resources (NCRR)

People needed

80

Starts

1998-07-01

Last updated by the study team

2005-06-24

Who can join

Age: any. Sex: any. Healthy volunteers: accepted.

Where it is running

• University of Texas- Houston Medical School — Houston, Texas, United States (enrolling)

Full record on ClinicalTrials.gov

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