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

This study is currently recruiting patients.

Sponsored by: National Institute of Neurological Disorders and Stroke (NINDS)
Baylor College of Medicine
Information provided by: Office of Rare Diseases (ORD)

Purpose

OBJECTIVES: I. Clinically evaluate members from families with dominantly inherited ataxias and collect blood samples for detailed molecular studies. II. Perform detailed clinical evaluations on patients with recessively inherited ataxias.

Condition
Hereditary Ataxia

MedlinePlus related topics:  Brain Diseases;   Degenerative Nerve Diseases;   Genetic Disorders;   Spinal Cord Diseases

Study Type: Observational
Study Design: Screening

Further Study Details: 

Expected Total Enrollment:  30

Study start: November 1999

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 for lymphoblastoid cell lines; gene mapping; and linkage analysis. A neuropathologic evaluation is conducted postmortem, when possible. Patients with recessive ataxia also receive a developmental assessment.

Eligibility

Genders Eligible for Study:  Both

Criteria


Location and Contact Information


Texas
      University of Texas Medical Branch at Galveston, Galveston,  Texas,  77555,  United States; Recruiting
Tetsuo Ashizawa, M.D.  409-772-2466 

Study chairs or principal investigators

Tetsuo Ashizawa,  Study Chair,  Baylor College of Medicine   

More Information

Study ID Numbers:  199/11796; BCM-H4499
Record last reviewed:  July 2004
Record first received:  October 18, 1999
ClinicalTrials.gov Identifier:  NCT00004306
Health Authority: United States: Federal Government
ClinicalTrials.gov processed this record on 2004-11-08
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