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

The recruitment status of this study is unknown because the information has not been verified recently.

Verified September 2006 by Office of Rare Diseases (ORD). Recruitment status was Recruiting

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

Sponsor:	National Institute of Neurological Disorders and Stroke (NINDS)
Collaborator:	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

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

Resource links provided by NLM:

Genetics Home Reference related topics: autosomal recessive cerebellar ataxia type 1 Friedreich ataxia infantile-onset spinocerebellar ataxia Marinesco-Sjögren syndrome spinocerebellar ataxia type 1 spinocerebellar ataxia type 2 spinocerebellar ataxia type 3 spinocerebellar ataxia type 6 VLDLR-associated cerebellar hypoplasia Help Me Understand Genetics

U.S. FDA Resources

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

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

Keywords provided by Office of Rare Diseases (ORD):

hereditary ataxia
neurologic and psychiatric disorders
rare disease

Additional relevant MeSH terms:

Ataxia
Spinocerebellar Degenerations
Spinocerebellar Ataxias
Dyskinesias
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms
Cerebellar Diseases

Brain Diseases
Central Nervous System Diseases
Spinal Cord Diseases
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases
Genetic Diseases, Inborn
Cerebellar Ataxia

ClinicalTrials.gov processed this record on February 13, 2012