Ignite Creation Date:
2024-05-05 @ 10:22 AM
Last Modification Date:
2024-10-26 @ 9:05 AM
Study NCT ID:
NCT00006393
Status:
UNKNOWN
Last Update Posted:
2005-06-24
First Post:
2000-10-04
Brief Title:
Genetic Study of the FBN1 Gene and Fibrillin-1 Abnormalities in Choctaw Native Americans and Other Patients With Systemic Sclerosis
Sponsor:
National Center for Research Resources NCRR
Organization:
National Center for Research Resources NCRR
Study Overview
Official Title:
Genetic Study of the FBN1 Gene and Fibrillin-1 Abnormalities in Choctaw Native Americans and Other Patients With Systemic Sclerosis
Status:
UNKNOWN
Status Verified Date:
2003-12
Last Known Status:
RECRUITING
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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
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
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 Oversight
Has Oversight DMC:
Is a FDA Regulated Drug?:
Is a FDA Regulated Device?:
Is an Unapproved Device?:
Is a PPSD?:
Is a US Export?:
Is an FDA AA801 Violation?:
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| UT-H-HSC-MS-96-206 | None | None | None |