This trial is active, not recruiting.

Conditions episodic ataxia syndrome, cerebellar diseases
Sponsor Office of Rare Diseases (ORD)
Collaborator Rare Diseases Clinical Research Network
Start date May 2006
End date July 2011
Trial size 125 participants
Trial identifier NCT00266760, RDCRN 5302, U54RR19482-03


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.

United States No locations recruiting
Other countries No locations recruiting

Study Design

Observational model cohort
Time perspective prospective

Eligibility Criteria

Male or female participants at least 5 years old.

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

Additional Information

Official title Episodic Ataxia Syndrome: Genotype-phenotype Correlation and Longitudinal Study
Principal investigator Joanna C. Jen, MD, PhD
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.
Trial information was received from ClinicalTrials.gov and was last updated in July 2010.
Information provided to ClinicalTrials.gov by Office of Rare Diseases (ORD).