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

This study is currently recruiting participants.

Verified by Office of Rare Diseases (ORD), September 2006

First Received: October 18, 1999 Last Updated: September 25, 2006 History of Changes

Sponsors and Collaborators:	National Institute of Neurological Disorders and Stroke (NINDS) Baylor College of Medicine
Information provided by:	Office of Rare Diseases (ORD)
ClinicalTrials.gov Identifier:	NCT00004306

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

Genetics Home Reference related topics: Friedreich ataxia Marinesco-Sjögren syndrome

U.S. FDA Resources

Study Type:	Observational
Study Design:	Screening
Official Title:	Clinical and Molecular Correlations in Spinocerebellar Ataxia Type 10 (SCA10)

Further study details as provided by Office of Rare Diseases (ORD):

Estimated Enrollment:	30
Study Start Date:	November 1999

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 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
Accepts Healthy Volunteers:	No

Criteria

Patients with recessive ataxia
Members of families with dominantly inherited ataxia

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00004306

Locations

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

Sponsors and Collaborators

National Institute of Neurological Disorders and Stroke (NINDS)

Baylor College of Medicine

Investigators

Study Chair:

Tetsuo Ashizawa

Baylor College of Medicine

More Information

No publications provided

Study ID Numbers:	199/11796, BCM-H4499
Study First Received:	October 18, 1999
Last Updated:	September 25, 2006
ClinicalTrials.gov Identifier:	NCT00004306 History of Changes
Health Authority:	United States: Federal Government

Keywords provided by Office of Rare Diseases (ORD):

hereditary ataxia
neurologic and psychiatric disorders
rare disease

Study placed in the following topic categories:

Spinal Cord Diseases
Rare Diseases
Central Nervous System Diseases
Neurodegenerative Diseases
Brain Diseases
Hereditary Ataxia
Dyskinesias
Cerebellar Ataxia
Signs and Symptoms

Heredodegenerative Disorders, Nervous System
Genetic Diseases, Inborn
Mental Disorders
Ataxia
Neurologic Manifestations
Cerebellar Diseases
Spinocerebellar Degenerations
Spinocerebellar Ataxias

Additional relevant MeSH terms:

Spinal Cord Diseases
Nervous System Diseases
Central Nervous System Diseases
Brain Diseases
Neurodegenerative Diseases
Dyskinesias
Cerebellar Ataxia
Signs and Symptoms

Heredodegenerative Disorders, Nervous System
Genetic Diseases, Inborn
Ataxia
Neurologic Manifestations
Cerebellar Diseases
Spinocerebellar Degenerations
Spinocerebellar Ataxias

ClinicalTrials.gov processed this record on May 07, 2009