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

The recruitment status of this study is unknown. The completion date has passed and the status has not been verified in more than two years.
Verified December 2003 by National Center for Research Resources (NCRR).
Recruitment status was:  Recruiting
University of Texas
Information provided by:
National Center for Research Resources (NCRR) Identifier:
First received: October 4, 2000
Last updated: June 23, 2005
Last verified: December 2003

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.

Systemic Sclerosis

Study Type: Observational
Study Design: Primary Purpose: Screening
Official Title: Genetic Study of the FBN1 Gene and Fibrillin-1 Abnormalities in Choctaw Native Americans and Other Patients With Systemic Sclerosis

Resource links provided by NLM:

Further study details as provided by National Center for Research Resources (NCRR):

Estimated Enrollment: 80
Study Start Date: July 1998
Detailed Description:


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.


Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes


--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)

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Please refer to this study by its identifier: NCT00006393

United States, Texas
University of Texas- Houston Medical School Recruiting
Houston, Texas, United States, 77030
Contact: Filemon K. Tan    713-500-6892      
Sponsors and Collaborators
National Center for Research Resources (NCRR)
University of Texas
Study Chair: Filemon Tan, M.D. University of Texas
  More Information Identifier: NCT00006393     History of Changes
Other Study ID Numbers: NCRR-M01RR02558-0104
Study First Received: October 4, 2000
Last Updated: June 23, 2005

Keywords provided by National Center for Research Resources (NCRR):
arthritis & connective tissue diseases
rare disease
systemic sclerosis

Additional relevant MeSH terms:
Scleroderma, Systemic
Scleroderma, Diffuse
Pathologic Processes
Connective Tissue Diseases
Skin Diseases processed this record on May 24, 2017