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

NCT ID: NCT00004306

Last Updated: 2012-03-06

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

18 participants

Study Classification

OBSERVATIONAL

Study Start Date

1999-11-30

Study Completion Date

2009-03-31

Brief Summary

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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

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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.

Conditions

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Hereditary Ataxia

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

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Inclusion Criteria

Subjects who have the diagnosis of SCA10 and their immediate relatives.

Exclusion Criteria

Children under 3 years of age, pregnant women, prisoners, mentally incapacitated subjects, and subjects who do not give consent.
Minimum Eligible Age

3 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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The University of Texas Medical Branch, Galveston

OTHER

Sponsor Role collaborator

Office of Rare Diseases (ORD)

NIH

Sponsor Role lead

Responsible Party

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Tetsuo Ashizawa

Professor and Chair, Department of Neurology, The University of Texas Medical Branch

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Tetsuo Ashizawa, MD

Role: PRINCIPAL_INVESTIGATOR

University of Texas, Galveston

Locations

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University of Texas Medical Branch at Galveston

Galveston, Texas, United States

Site Status

Countries

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United States

Other Identifiers

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199/11796

Identifier Type: -

Identifier Source: org_study_id

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