genotype-phenotype-episodi-ataxia-syndrome

Episodic Ataxia Syndrome (EA): Genotype-Phenotype correlation and longitudinal study

Sponsor	University College London
Funder	National Institutes of Health (NIH - USA)
CI	Professor Michael Hanna
Sites	London Queen Square
More information one and two

Background

EA is a rare, genetic disease that causes repeated episodes of dizziness and incoordination.

The majority of cases are likely caused by an inherent genetic mutation. But in some patients the mutation is unidentifiable.

Study information

This is a multi-centre cross-sectional data collection and a prospective longitudinal study. EA is a chronic disease progressing over years rather than months. So patients will be followed at a yearly interval for two years.

Primary objective

to collect prospective standardised data to better define the clinical phenotype of the EAs
to find clinically relevant endpoints for use in therapeutic trials

The study will also:

Fully characterize the clinical spectra and the natural history of genetically defined EA.
Systematically investigate phenotypic differences between EA patients with KCNA1/CACNA1A mutations and those without.