An observational study in Episodic Ataxia Syndrome and Cerebellar Diseases, sponsored by University of California, Los Angeles. Completed at 6 sites in 3 countries. Open to participants aged 5 Years and older. Per ClinicalTrials.gov, last updated 2023-05-15.
Sponsored by University of California, Los Angeles · Observational
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.
295 studies on the registry are indexed under Ataxia; 51 are open to participants now.
This study's enrollment of 39 is below the median of 100 across 70 observational studies indexed under Ataxia.
Browse Ataxia studies →University of California, Los Angeles is the lead sponsor of 1,142 studies on the registry; 192 are open to participants now.
Of its 91 completed or terminated interventional studies of FDA-regulated products, 66 (73%) have results posted.
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Individuals with episodic ataxia
A clinically confirmed diagnosis of episodic ataxia as defined by one of the following three features:
Exclusion Criteria:
This study is completed, as verified in May 2023. You cannot join it, but the record below documents what was studied.
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University of California, Los Angeles