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.

Condition
Ataxia Cerebellar Diseases

Further study details as provided by Office of Rare Diseases (ORD):

Expected Total Enrollment:  75

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 sub-types of EA have been identified, and other types likely exist. Specific characteristics of each EA sub-type, however, have not been adequately described. The purpose of this study is to better define the clinical features and genetic basis of the various sub-types 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.

Ages Eligible for Study:  5 Years and above,  Genders Eligible for Study:  Both

Criteria

Inclusion Criteria:

• A clinically confirmed diagnosis of episodic ataxia as defined by two of the following three features:

  1. Presence of recurrent, transient episodes of dizziness and incoordination
  2. Symptoms triggered by stress or exertion
  3. Progressive interictal ataxia

OR

• One of the three above criteria with at least one other affected family member who meets two criteria

OR

• Mutation of the KCNA1 or CACNA1A genes

Exclusion Criteria:

• Any other disorder known to cause episodic ataxia

Please refer to this study by ClinicalTrials.gov identifier  NCT00266760

Kathleen M. Jacobson      310-825-5910    kmjake@ucla.edu

California
      Reed Neurological Research Center, UCLA, Los Angeles,  California,  90095,  United States
United Kingdom, London
      Centre for Neuromuscular Disease, Queen Square,  London,  WC1N 3BG,  United Kingdom

Study chairs or principal investigators

Robert W. Baloh, MD,  Study Chair,  David Geffen School of Medicine at UCLA   
Joanna C. Jen, MD, PhD,  Principal Investigator,  David Geffen School of Medicine at UCLA   
Tracey Graves, MD,  Principal Investigator,  Institute of Neurology and National Hospital for Neurology   
Yoon-Hee Cha, MD,  Principal Investigator,  David Geffen School of Medicine at UCLA   

Study ID Numbers:  U54RR19482-03; 5302 RDCRN
Last Updated:  December 16, 2005
Record first received:  December 16, 2005
ClinicalTrials.gov Identifier:  NCT00266760
Health Authority: United States: Federal Government
ClinicalTrials.gov processed this record on 2006-01-10