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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
Sponsor:
ClinicalTrials.gov Identifier:
NCT00006393
First Posted: October 5, 2000
Last Update Posted: June 24, 2005
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
Collaborator:
University of Texas
Information provided by:
National Center for Research Resources (NCRR)
  Purpose

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.


Condition
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:

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.

  Eligibility

Information from the National Library of Medicine

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

  Contacts and Locations
Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00006393


Locations
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
Investigators
Study Chair: Filemon Tan, M.D. University of Texas
  More Information

ClinicalTrials.gov Identifier: NCT00006393     History of Changes
Other Study ID Numbers: NCRR-M01RR02558-0104
UT-H-HSC-MS-96-206
First Submitted: October 4, 2000
First Posted: October 5, 2000
Last Update Posted: June 24, 2005
Last Verified: December 2003

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

Additional relevant MeSH terms:
Sclerosis
Scleroderma, Systemic
Scleroderma, Diffuse
Pathologic Processes
Connective Tissue Diseases
Skin Diseases