Genetic Study of the FBN1 Gene and Fibrillin-1 Abnormalities in Choctaw Native Americans and Other Patients With Systemic Sclerosis
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|ClinicalTrials.gov Identifier: NCT00006393|
Recruitment Status : Unknown
Verified December 2003 by National Center for Research Resources (NCRR).
Recruitment status was: Recruiting
First Posted : October 5, 2000
Last Update Posted : June 24, 2005
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 or disease|
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.
|Study Type :||Observational|
|Enrollment :||80 participants|
|Official Title:||Genetic Study of the FBN1 Gene and Fibrillin-1 Abnormalities in Choctaw Native Americans and Other Patients With Systemic Sclerosis|
|Study Start Date :||July 1998|
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00006393
|United States, Texas|
|University of Texas- Houston Medical School||Recruiting|
|Houston, Texas, United States, 77030|
|Contact: Filemon K. Tan 713-500-6892|
|Study Chair:||Filemon Tan, M.D.||University of Texas|