Ignite Creation Date:
2024-05-05 @ 9:42 AM
Last Modification Date:
2024-10-26 @ 9:04 AM
Study NCT ID:
NCT00004306
Status:
COMPLETED
Last Update Posted:
2012-03-06
First Post:
1999-10-18
Brief Title:
Clinical and Molecular Correlations in Spinocerebellar Ataxia Type 10 SCA10
Sponsor:
Office of Rare Diseases ORD
Organization:
Office of Rare Diseases ORD
Study Overview
Official Title:
Pathogenic Mechanism of Spinocerebellar Ataxia Type 10 SCA10
Status:
COMPLETED
Status Verified Date:
2012-03
Last Known Status:
None
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 Clinically evaluate members from families with a dominantly inherited ataxia and collect blood skin and muscle samples for detailed molecular studies
II Perform detailed clinical evaluations on patients with recessively inherited ataxias
II Perform detailed clinical evaluations on patients with recessively inherited ataxias
Detailed Description:
PROTOCOL OUTLINE Participants undergo a comprehensive clinical and molecular evaluation Studies include neurologic evaluation including magnetic resonance imaging and nerve conduction studies ophthalmologic exam audiologic exam including auditory brain stem evoked response DNA extraction from blood skin and muscle genotype phenotype correlation
A neuropathologic evaluation is conducted postmortem when possible
A neuropathologic evaluation is conducted postmortem when possible
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None