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

Primary Purpose

Systemic Sclerosis

Status
Unknown status
Phase
Locations
United States
Study Type
Observational
Intervention
Sponsored by
National Center for Research Resources (NCRR)
About
Eligibility
Locations
Outcomes
Full info

About this trial

This is an observational trial for Systemic Sclerosis focused on measuring arthritis & connective tissue diseases, rare disease, systemic sclerosis

Eligibility Criteria

0 Years - undefined (Child, Adult, Older Adult)All SexesAccepts Healthy Volunteers

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)

Sites / Locations

  • University of Texas- Houston Medical SchoolRecruiting

Outcomes

Primary Outcome Measures

Secondary Outcome Measures

Full Information

First Posted
October 4, 2000
Last Updated
June 23, 2005
Sponsor
National Center for Research Resources (NCRR)
Collaborators
University of Texas
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1. Study Identification

Unique Protocol Identification Number
NCT00006393
Brief Title
Genetic Study of the FBN1 Gene and Fibrillin-1 Abnormalities in Choctaw Native Americans and Other Patients With Systemic Sclerosis
Official Title
Genetic Study of the FBN1 Gene and Fibrillin-1 Abnormalities in Choctaw Native Americans and Other Patients With Systemic Sclerosis
Study Type
Observational

2. Study Status

Record Verification Date
December 2003
Overall Recruitment Status
Unknown status
Study Start Date
July 1998 (undefined)
Primary Completion Date
undefined (undefined)
Study Completion Date
undefined (undefined)

3. Sponsor/Collaborators

Name of the Sponsor
National Center for Research Resources (NCRR)
Collaborators
University of Texas

4. Oversight

5. Study Description

Brief Summary
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.
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.

6. Conditions and Keywords

Primary Disease or Condition Being Studied in the Trial, or the Focus of the Study
Systemic Sclerosis
Keywords
arthritis & connective tissue diseases, rare disease, systemic sclerosis

7. Study Design

Enrollment
80 (false)

10. Eligibility

Sex
All
Minimum Age & Unit of Time
0 Years
Accepts Healthy Volunteers
Accepts Healthy Volunteers
Eligibility 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)
Overall Study Officials:
First Name & Middle Initial & Last Name & Degree
Filemon Tan, M.D.
Organizational Affiliation
University of Texas
Official's Role
Study Chair
Facility Information:
Facility Name
University of Texas- Houston Medical School
City
Houston
State/Province
Texas
ZIP/Postal Code
77030
Country
United States
Individual Site Status
Recruiting
Facility Contact:
First Name & Middle Initial & Last Name & Degree
Filemon K. Tan
Phone
713-500-6892

12. IPD Sharing Statement

Learn more about this trial

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

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