Characteristics of Episodic Ataxia Syndrome

• ClinicalTrials.gov Identifier: NCT00266760
• Recruitment Status: Completed
• First Posted: December 19, 2005
• Last Update Posted: May 15, 2023
• Sponsor: University of California, Los Angeles
• Collaborators: Office of Rare Diseases (ORD); Rare Diseases Clinical Research Network
• Information provided by (Responsible Party): University of California, Los Angeles

Study Description

Brief Summary:

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 or disease
Episodic Ataxia Syndrome; Cerebellar Diseases

Detailed 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.

Study Design

• Study Type: Observational
• Actual Enrollment: 39 participants
• Observational Model: Cohort
• Time Perspective: Prospective
• Official Title: Episodic Ataxia Syndrome: Genotype-phenotype Correlation and Longitudinal Study
• Study Start Date: May 2006
• Actual Primary Completion Date: July 2011
• Actual Study Completion Date: July 2011

Groups and Cohorts

Outcome Measures

Biospecimen Retention:   Samples With DNA

Blood

Eligibility Criteria

• Ages Eligible for Study: 5 Years and older (Child, Adult, Older Adult)
• Sexes Eligible for Study: All
• Accepts Healthy Volunteers: No
• Sampling Method: Non-Probability Sample

Study Population

Individuals with episodic ataxia

Criteria

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

Contacts and Locations

Locations

United States, California

Reed Neurological Research Center, UCLA

Los Angeles, California, United States, 90095

United States, Kansas

University of Kansas Medical Center

Kansas City, Kansas, United States, 66160

United States, Massachusetts

Brigham & Women's Hospital

Boston, Massachusetts, United States, 02115

United States, New York

University of Rochester School of Medicine

Rochester, New York, United States, 14642

Canada, Ontario

London Health Sciences Centre

London, Ontario, Canada, N6A 5W9

United Kingdom

Institute of Neurology, Center for Neuromuscular Disease

Queen Square, London, United Kingdom, WC1N 3BG

Sponsors and Collaborators

University of California, Los Angeles

Office of Rare Diseases (ORD)

Rare Diseases Clinical Research Network

Investigators

• Study Chair: Robert W. Baloh, MD; University of California, Los Angeles
• Principal Investigator: Joanna C. Jen, MD, PhD; University of California, Los Angeles
• Principal Investigator: Tracey Graves, MD; Institute of Neurology and National Hospital for Neurology
• Principal Investigator: Yoon-Hee Cha, MD; University of California, Los Angeles

More Information

Publications of Results:

Graves TD, Cha YH, Hahn AF, Barohn R, Salajegheh MK, Griggs RC, Bundy BN, Jen JC, Baloh RW, Hanna MG; CINCH Investigators. Episodic ataxia type 1: clinical characterization, quality of life and genotype-phenotype correlation. Brain. 2014 Apr;137(Pt 4):1009-18. doi: 10.1093/brain/awu012. Epub 2014 Feb 26.

Other Publications:

Jen J, Kim GW, Baloh RW. Clinical spectrum of episodic ataxia type 2. Neurology. 2004 Jan 13;62(1):17-22. doi: 10.1212/01.wnl.0000101675.61074.50.

Sasaki O, Jen JC, Baloh RW, Kim GW, Isawa M, Usami S. Neurotological findings in a family with episodic ataxia. J Neurol. 2003 Mar;250(3):373-5. doi: 10.1007/s00415-003-0994-3. No abstract available.

Denier C, Ducros A, Vahedi K, Joutel A, Thierry P, Ritz A, Castelnovo G, Deonna T, Gerard P, Devoize JL, Gayou A, Perrouty B, Soisson T, Autret A, Warter JM, Vighetto A, Van Bogaert P, Alamowitch S, Roullet E, Tournier-Lasserve E. High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2. Neurology. 1999 Jun 10;52(9):1816-21. doi: 10.1212/wnl.52.9.1816.

• Responsible Party: University of California, Los Angeles
• ClinicalTrials.gov Identifier: NCT00266760
• Other Study ID Numbers: RDCRN 5302; U54RR019482-03 ( U.S. NIH Grant/Contract )
• First Posted: December 19, 2005
• Last Update Posted: May 15, 2023
• Last Verified: May 2023

Additional relevant MeSH terms:

Ataxia; Cerebellar Ataxia; Cerebellar Diseases; Syndrome; Disease; Pathologic Processes; Dyskinesias; Neurologic Manifestations; Nervous System Diseases; Brain Diseases; Central Nervous System Diseases