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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00004306
Recruitment Status : Completed
First Posted : October 19, 1999
Last Update Posted : March 6, 2012
The University of Texas Medical Branch, Galveston
Information provided by (Responsible Party):
Tetsuo Ashizawa, 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.

Condition or disease
Hereditary Ataxia

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.

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Study Type : Observational
Actual Enrollment : 18 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Pathogenic Mechanism of Spinocerebellar Ataxia Type 10 (SCA10)
Study Start Date : November 1999
Actual Primary Completion Date : March 2009
Actual Study Completion Date : March 2009

Biospecimen Retention:   Samples With DNA
DNA from blood and skin and muscle biopsy samples.

Information from the National Library of Medicine

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Ages Eligible for Study:   3 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with inherited ataxia

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00004306

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United States, Texas
University of Texas Medical Branch at Galveston
Galveston, Texas, United States, 77555
Sponsors and Collaborators
Office of Rare Diseases (ORD)
The University of Texas Medical Branch, Galveston
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Principal Investigator: Tetsuo Ashizawa, MD University of Texas, Galveston
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Responsible Party: Tetsuo Ashizawa, Professor and Chair, Department of Neurology, The University of Texas Medical Branch, Office of Rare Diseases (ORD) Identifier: NCT00004306    
Other Study ID Numbers: 199/11796
First Posted: October 19, 1999    Key Record Dates
Last Update Posted: March 6, 2012
Last Verified: March 2012
Keywords provided by Tetsuo Ashizawa, Office of Rare Diseases (ORD):
hereditary ataxia
neurologic and psychiatric disorders
rare disease
Additional relevant MeSH terms:
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Cerebellar Ataxia
Spinocerebellar Ataxias
Spinocerebellar Degenerations
Neurologic Manifestations
Nervous System Diseases
Cerebellar Diseases
Brain Diseases
Central Nervous System Diseases
Spinal Cord Diseases
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Genetic Diseases, Inborn