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

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

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

MedlinePlus related topics:

Scleroderma

U.S. FDA Resources

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

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

Study ID Numbers:	NCRR-M01RR02558-0104, UT-H-HSC-MS-96-206
First Received:	October 4, 2000
Last Updated:	June 23, 2005
ClinicalTrials.gov Identifier:	NCT00006393
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

Sclerosis

Scleroderma, Systemic

Congenital Abnormalities

Additional relevant MeSH terms:

Pathologic Processes

ClinicalTrials.gov processed this record on September 05, 2008