Clinical and Molecular Correlations in Spinocerebellar Ataxia Type 10 (SCA10)

Completed

• Conditions: Hereditary Ataxia

• Registration Number: NCT00004306
• Lead Sponsor: Office of Rare Diseases (ORD)

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.

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.

Study Timeline

• Study First Submitted: 1999-10-18
• Study First Submitted QC: 1999-10-18
• Study First Posted: 1999-10-19
• Study Start: 1999-11
• Primary Completion: 2009-03
• Study Completion: 2009-03
• Status Verified: 2012-03
• Last Update Submitted: 2012-03-05
• Last Update Posted: 2012-03-06

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 18

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Trial Locations

Locations (1)

University of Texas Medical Branch at Galveston; 🇺🇸 Galveston, Texas, United States