- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT00004306
Clinical and Molecular Correlations in Spinocerebellar Ataxia Type 10 (SCA10)
Pathogenic Mechanism of Spinocerebellar Ataxia Type 10 (SCA10)
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.
Study Overview
Status
Conditions
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 Type
Enrollment (Actual)
Contacts and Locations
Study Locations
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Texas
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Galveston, Texas, United States, 77555
- University of Texas Medical Branch at Galveston
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Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Genders Eligible for Study
Sampling Method
Study Population
Description
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.
Study Plan
How is the study designed?
Design Details
- Observational Models: Cohort
- Time Perspectives: Prospective
Collaborators and Investigators
Sponsor
Collaborators
Investigators
- Principal Investigator: Tetsuo Ashizawa, MD, University of Texas, Galveston
Study record dates
Study Major Dates
Study Start
Primary Completion (Actual)
Study Completion (Actual)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Estimate)
Study Record Updates
Last Update Posted (Estimate)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
- Brain Diseases
- Central Nervous System Diseases
- Nervous System Diseases
- Neurologic Manifestations
- Genetic Diseases, Inborn
- Neurodegenerative Diseases
- Dyskinesias
- Spinal Cord Diseases
- Heredodegenerative Disorders, Nervous System
- Cerebellar Diseases
- Ataxia
- Cerebellar Ataxia
- Spinocerebellar Ataxias
- Spinocerebellar Degenerations
Other Study ID Numbers
- 199/11796
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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