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Characteristics of Episodic Ataxia Syndrome

The recruitment status of this study is unknown. The completion date has passed and the status has not been verified in more than two years.
Verified July 2010 by Office of Rare Diseases (ORD).
Recruitment status was:  Active, not recruiting
Rare Diseases Clinical Research Network
Information provided by:
Office of Rare Diseases (ORD) Identifier:
First received: December 16, 2005
Last updated: July 14, 2010
Last verified: July 2010
Episodic ataxia (EA) is a rare genetic disease characterized by episodes of imbalance, incoordination, and slurring of speech. The underlying cause of EA is only partly understood, and currently there are no established treatments. There is also little information about the link between EA's clinical features and its genetic basis. The purpose of this study is to better characterize EA and disease progression. In turn, this may direct the development of future treatments.

Episodic Ataxia Syndrome Cerebellar Diseases

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Episodic Ataxia Syndrome: Genotype-phenotype Correlation and Longitudinal Study

Resource links provided by NLM:

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

Biospecimen Retention:   Samples With DNA

Estimated Enrollment: 125
Study Start Date: May 2006
Estimated Study Completion Date: July 2011
Estimated Primary Completion Date: July 2011 (Final data collection date for primary outcome measure)
Detailed Description:

Attacks of ataxia, or the loss of ability to coordinate muscular movement, are often triggered by stress or exertion. EA is likely caused by an inherited genetic mutation; many individuals with EA have abnormalities in the KCNA1 or CACNA1A genes. To date, two known subtypes of EA have been identified, and other types likely exist. Specific characteristics of each EA subtype, however, have not been adequately described. The purpose of this study is to better define the clinical features and genetic basis of the various subtypes of EA and to evaluate disease progression. The study will also establish relevant study endpoints for use in future therapeutic trials.

This multi-center observational study will involve both a cross-sectional data analysis and a prospective longitudinal analysis. Participants will initially attend an outpatient study visit that will last 7 hours. This initial evaluation will include a medical history, a physical examination, neurological testing, and an ataxia assessment. Blood will be collected for genetic testing. Additionally, the following procedures may be conducted: ocular motor test, electromyography/nerve conduction study, electroencephalogram, MRI, and digital videotaping. Follow-up evaluations will occur on a yearly basis for at least 2 years; each will last 4 hours.


Ages Eligible for Study:   5 Years and older   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Individuals with episodic ataxia

Inclusion Criteria:

  • A clinically confirmed diagnosis of episodic ataxia as defined by one of the following three features:

    1. Clear-cut episodes of recurrent, transient ataxia
    2. Mutation confirmed in KCNA1 or CACNA1A
    3. Ataxic features with a first degree relative with episodic ataxia

Exclusion Criteria:

  • Any other disorder known to cause episodic ataxia
  Contacts and Locations
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Please refer to this study by its identifier: NCT00266760

United States, California
Reed Neurological Research Center, UCLA
Los Angeles, California, United States, 90095
United States, Kansas
University of Kansas Medical Center
Kansas City, Kansas, United States, 66160
United States, Massachusetts
Brigham & Women's Hospital
Boston, Massachusetts, United States, 02115
United States, New York
University of Rochester School of Medicine
Rochester, New York, United States, 14642
Canada, Ontario
London Health Sciences Centre
London, Ontario, Canada, N6A 5W9
United Kingdom
Institute of Neurology, Center for Neuromuscular Disease
Queen Square, London, United Kingdom, WC1N 3BG
Sponsors and Collaborators
Office of Rare Diseases (ORD)
Rare Diseases Clinical Research Network
Study Chair: Robert W. Baloh, MD University of California, Los Angeles
Principal Investigator: Joanna C. Jen, MD, PhD University of California, Los Angeles
Principal Investigator: Tracey Graves, MD Institute of Neurology and National Hospital for Neurology
Principal Investigator: Yoon-Hee Cha, MD University of California, Los Angeles
  More Information

Responsible Party: Robert W. Baloh, MD, David Geffen School of Medicine at UCLA Identifier: NCT00266760     History of Changes
Other Study ID Numbers: RDCRN 5302
U54RR019482-03 ( U.S. NIH Grant/Contract )
Study First Received: December 16, 2005
Last Updated: July 14, 2010

Additional relevant MeSH terms:
Cerebellar Ataxia
Cerebellar Diseases
Pathologic Processes
Neurologic Manifestations
Nervous System Diseases
Signs and Symptoms
Brain Diseases
Central Nervous System Diseases processed this record on September 19, 2017