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Clinical Studies

5302: Episodic Ataxia Syndrome: Genotype-Phenotype Correlation and Longitudinal Study

Status: Recruiting

Summary:

Please Note: The Rare Diseases Clinical Research Network will make every effort to enroll all the patients we can, but we cannot make any guarantees that we will be able to enroll everyone in a particular study who wants to participate.

Episodic Ataxia Syndrome is a rare, genetic disease that causes episodes of dizziness and incoordination. The purpose of this study is to collect data from volunteers with the disease in order to learn more about Episodic Ataxia (EA) and establish a database of patients with the condition for future studies.

Target Enrollment:

Expected total enrollment is 100 participants, ages 5 years and above, with a clinically confirmed diagnosis of EA as defined by at least two pre-defined features, or individuals not meeting clinical criteria but possessing the KCNA1 or CACNA1A mutation.

Participating Institutions:

University of Rochester, Rochester, NY
University of Los Angeles (UCLA), Los Angeles, CA
Institute of Neurology, London, UK
Harvard/Brigham and Women's Hospital, Boston, MA
London Health Sciences Centre, London, Ontario, Canada
The University of Kansas Medical Center, Kansas City, KS

How to Participate:

In order to participate in a study, you must personally contact the study coordinator of any of the participating institutions by phone or by e-mail. Please use the information below to inquire about participation.

Joanna C. Jen, MD, PhD
UCLA, Department of Neurology
Box 951769, 710 Westwood Plaza
Los Angeles, CA 90095
Phone: 310-825-5910
E-mail: jjen@ucla.edu

Join the Contact Registry for: Episodic Ataxias