Status:
COMPLETED
Characteristics of Episodic Ataxia Syndrome
Lead Sponsor:
University of California, Los Angeles
Collaborating Sponsors:
Office of Rare Diseases (ORD)
Rare Diseases Clinical Research Network
Conditions:
Episodic Ataxia Syndrome
Cerebellar Diseases
Eligibility:
All Genders
5+ years
Brief Summary
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...
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 hav...
Eligibility Criteria
Inclusion
- 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
- Any other disorder known to cause episodic ataxia
Key Trial Info
Start Date :
May 1 2006
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
July 1 2011
Estimated Enrollment :
39 Patients enrolled
Trial Details
Trial ID
NCT00266760
Start Date
May 1 2006
End Date
July 1 2011
Last Update
May 15 2023
Active Locations (6)
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1
Reed Neurological Research Center, UCLA
Los Angeles, California, United States, 90095
2
University of Kansas Medical Center
Kansas City, Kansas, United States, 66160
3
Brigham & Women's Hospital
Boston, Massachusetts, United States, 02115
4
University of Rochester School of Medicine
Rochester, New York, United States, 14642