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

NCT00006393 | Unknown

• 2 other identifiers: NCRR-M01RR02558-0104UT-H-HSC-MS-96-206
• Study Type: observational
• Target: 80
• Locations: 1 country
• Sites: 1

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.

Conditions

Systemic Sclerosis

Keywords

arthritis & connective tissue diseases; rare disease; systemic sclerosis

Eligibility Criteria

• Age: 0 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

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)

Contact the study team to discuss eligibility requirements. They can help determine if this study is right for you.

Sponsors & Collaborators

• National Center for Research Resources (NCRR): lead
• University of Texas: collaborator

Study Sites (1)

University of Texas- Houston Medical School

Houston, Texas, 77030, United States

RECRUITING

MeSH Terms

Conditions

Scleroderma, Systemic; Arthritis; Connective Tissue Diseases; Rare Diseases

Condition Hierarchy (Ancestors)

Skin and Connective Tissue Diseases; Skin Diseases; Joint Diseases; Musculoskeletal Diseases; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Filemon Tan, M.D.

  University of Texas

  STUDY CHAIR

Study Design

• Study Type: observational
• Sponsor Type: NIH

Study Record Dates

• First Submitted: October 4, 2000
• First Posted: October 5, 2000
• Study Start: July 1, 1998
• Last Updated: June 24, 2005

Record last verified: 2003-12

Locations

US (1)