- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT00266760
Characteristics of Episodic Ataxia Syndrome
Episodic Ataxia Syndrome: Genotype-phenotype Correlation and Longitudinal Study
Study Overview
Status
Conditions
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.
Study Type
Enrollment (Actual)
Contacts and Locations
Study Locations
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Ontario
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London, Ontario, Canada, N6A 5W9
- London Health Sciences Centre
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London
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Queen Square, London, United Kingdom, WC1N 3BG
- Institute of Neurology, Center for Neuromuscular Disease
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California
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Los Angeles, California, United States, 90095
- Reed Neurological Research Center, UCLA
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Kansas
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Kansas City, Kansas, United States, 66160
- University of Kansas Medical Center
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Massachusetts
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Boston, Massachusetts, United States, 02115
- Brigham & Women's Hospital
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New York
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Rochester, New York, United States, 14642
- University of Rochester School of Medicine
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Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Sampling Method
Study Population
Description
Inclusion Criteria:
A clinically confirmed diagnosis of episodic ataxia as defined by one of the following three features:
- Clear-cut episodes of recurrent, transient ataxia
- Mutation confirmed in KCNA1 or CACNA1A
- Ataxic features with a first degree relative with episodic ataxia
Exclusion Criteria:
- Any other disorder known to cause episodic ataxia
Study Plan
How is the study designed?
Design Details
- Observational Models: Cohort
- Time Perspectives: Prospective
Collaborators and Investigators
Investigators
- 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
Publications and helpful links
General Publications
- Jen J, Kim GW, Baloh RW. Clinical spectrum of episodic ataxia type 2. Neurology. 2004 Jan 13;62(1):17-22. doi: 10.1212/01.wnl.0000101675.61074.50.
- Sasaki O, Jen JC, Baloh RW, Kim GW, Isawa M, Usami S. Neurotological findings in a family with episodic ataxia. J Neurol. 2003 Mar;250(3):373-5. doi: 10.1007/s00415-003-0994-3. No abstract available.
- Denier C, Ducros A, Vahedi K, Joutel A, Thierry P, Ritz A, Castelnovo G, Deonna T, Gerard P, Devoize JL, Gayou A, Perrouty B, Soisson T, Autret A, Warter JM, Vighetto A, Van Bogaert P, Alamowitch S, Roullet E, Tournier-Lasserve E. High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2. Neurology. 1999 Jun 10;52(9):1816-21. doi: 10.1212/wnl.52.9.1816.
- Graves TD, Cha YH, Hahn AF, Barohn R, Salajegheh MK, Griggs RC, Bundy BN, Jen JC, Baloh RW, Hanna MG; CINCH Investigators. Episodic ataxia type 1: clinical characterization, quality of life and genotype-phenotype correlation. Brain. 2014 Apr;137(Pt 4):1009-18. doi: 10.1093/brain/awu012. Epub 2014 Feb 26.
Study record dates
Study Major Dates
Study Start
Primary Completion (Actual)
Study Completion (Actual)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Estimate)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Additional Relevant MeSH Terms
Other Study ID Numbers
- RDCRN 5302
- U54RR019482-03 (U.S. NIH Grant/Contract)
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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