Expired Study
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Galveston, Texas 77555


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 summary:

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.


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 is Available At:

Original ID:




Secondary ID:

Study Acronym:

Brief Title:

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

Official Title:

Pathogenic Mechanism of Spinocerebellar Ataxia Type 10 (SCA10)

Overall Status:


Study Phase:




Minimum Age:

3 Years

Maximum Age:


Quick Facts

Healthy Volunteers
Oversight Has DMC
Study Is FDA Regulated
Study Is Section 801
Has Expanded Access

Study Source:

Office of Rare Diseases (ORD)

Oversight Authority:

United States: Federal Government

Reasons Why Stopped:

Study Type:


Study Design:

Observational Model: Cohort, Time Perspective: P

Number of Arms:


Number of Groups:


Total Enrollment:


Enrollment Type:


Overall Contact Information

Official Name:Tetsuo Ashizawa, MD
Principal Investigator
University of Texas, Galveston

Study Dates

Start Date:November 1999
Completion Date:March 2009
Completion Type:Actual
Primary Completion Date:March 2009
Primary Completion Type:Actual
Verification Date:March 2012
Last Changed Date:March 5, 2012
First Received Date:October 18, 1999

Study Outcomes

There are no available Study Outcomes

Study Interventions

There are no available Study Interventions

Study Arms

There are no available Study Arms

Study Agencies

Agency Class:NIH
Agency Type:Lead Sponsor
Agency Name:Office of Rare Diseases (ORD)
Agency Class:Other
Agency Type:Collaborator
Agency Name:The University of Texas, Galveston

Samples and Retentions

Sample Retention:Samples With DNA
Description: DNA from blood and skin and muscle biopsy samples.
Study Population: Patients with inherited ataxia
Sample Method:Non-Probability Sample

Study References

There are no available Study References

Data Source: ClinicalTrials.gov

Date Processed: January 21, 2020

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