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

This study is currently recruiting participants.

Verified by National Center for Research Resources (NCRR), December 2003

First Received: October 4, 2000 Last Updated: June 23, 2005 History of Changes

Sponsors and Collaborators:	National Center for Research Resources (NCRR) University of Texas
Information provided by:	National Center for Research Resources (NCRR)
ClinicalTrials.gov Identifier:	NCT00006393

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:	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:

MedlinePlus related topics: Scleroderma

U.S. FDA Resources

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

Genders Eligible for Study:	Both
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

Please refer to this study by its ClinicalTrials.gov identifier: 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

No publications provided

Study ID Numbers:	NCRR-M01RR02558-0104, UT-H-HSC-MS-96-206
Study First Received:	October 4, 2000
Last Updated:	June 23, 2005
ClinicalTrials.gov Identifier:	NCT00006393 History of Changes
Health Authority:	United States: Federal Government

Keywords provided by National Center for Research Resources (NCRR):

arthritis & connective tissue diseases
rare disease
systemic sclerosis

Study placed in the following topic categories:

Skin Diseases
Arthritis
Rare Diseases
Connective Tissue Diseases
Scleroderma

Scleroderma, Diffuse
Sclerosis
Scleroderma, Systemic
Congenital Abnormalities

Additional relevant MeSH terms:

Pathologic Processes
Skin Diseases
Connective Tissue Diseases

Scleroderma, Diffuse
Sclerosis
Scleroderma, Systemic

ClinicalTrials.gov processed this record on July 02, 2009