Characteristics of Episodic Ataxia Syndrome

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: NCT00266760
Recruitment Status : Unknown
Verified July 2010 by Office of Rare Diseases (ORD).
Recruitment status was:  Active, not recruiting
First Posted : December 19, 2005
Last Update Posted : July 16, 2010
Rare Diseases Clinical Research Network
Information provided by:
Office of Rare Diseases (ORD)

December 16, 2005
December 19, 2005
July 16, 2010
May 2006
July 2011   (Final data collection date for primary outcome measure)
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Complete list of historical versions of study NCT00266760 on Archive Site
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Characteristics of Episodic Ataxia Syndrome
Episodic Ataxia Syndrome: Genotype-phenotype Correlation and Longitudinal Study
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.

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.

Observational Model: Cohort
Time Perspective: Prospective
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Retention:   Samples With DNA
Non-Probability Sample
Individuals with episodic ataxia
  • Episodic Ataxia Syndrome
  • Cerebellar Diseases
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*   Includes publications given by the data provider as well as publications identified by Identifier (NCT Number) in Medline.
Unknown status
July 2011
July 2011   (Final data collection date for primary outcome measure)

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
Sexes Eligible for Study: All
5 Years and older   (Child, Adult, Older Adult)
Contact information is only displayed when the study is recruiting subjects
Canada,   United Kingdom,   United States
RDCRN 5302
U54RR019482-03 ( U.S. NIH Grant/Contract )
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Robert W. Baloh, MD, David Geffen School of Medicine at UCLA
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
Office of Rare Diseases (ORD)
July 2010