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 because the information has not been verified recently.
Verified December 2003 by National Center for Research Resources (NCRR).
Recruitment status was  Recruiting
Sponsor:
Collaborator:
University of Texas
Information provided by:
National Center for Research Resources (NCRR)
ClinicalTrials.gov Identifier:
NCT00006393
First received: October 4, 2000
Last updated: June 23, 2005
Last verified: December 2003
  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

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
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

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

No publications provided

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

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

Additional relevant MeSH terms:
Congenital Abnormalities
Scleroderma, Systemic
Scleroderma, Diffuse
Sclerosis
Marfan Syndrome
Connective Tissue Diseases
Skin Diseases
Pathologic Processes
Bone Diseases, Developmental
Bone Diseases
Musculoskeletal Diseases
Heart Defects, Congenital
Cardiovascular Abnormalities
Cardiovascular Diseases
Heart Diseases
Abnormalities, Multiple
Genetic Diseases, Inborn

ClinicalTrials.gov processed this record on August 27, 2014