Characteristics of Episodic Ataxia Syndrome

NCT ID: NCT00266760

Last Updated: 2023-05-15

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 39 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2006-05-31
• Study Completion Date: 2011-07-31

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.

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.

Conditions

Episodic Ataxia Syndrome; Cerebellar Diseases

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Eligibility 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

• Minimum Eligible Age: 5 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Office of Rare Diseases (ORD)

NIH

Sponsor Role: collaborator

Rare Diseases Clinical Research Network

NETWORK

Sponsor Role: collaborator

University of California, Los Angeles

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Robert W. Baloh, MD

Role: STUDY_CHAIR

University of California, Los Angeles

Joanna C. Jen, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

University of California, Los Angeles

Tracey Graves, MD

Role: PRINCIPAL_INVESTIGATOR

Institute of Neurology and National Hospital for Neurology

Yoon-Hee Cha, MD

Role: PRINCIPAL_INVESTIGATOR

University of California, Los Angeles

Locations

Reed Neurological Research Center, UCLA

Los Angeles, California, United States

University of Kansas Medical Center

Kansas City, Kansas, United States

Brigham & Women's Hospital

Boston, Massachusetts, United States

University of Rochester School of Medicine

Rochester, New York, United States

London Health Sciences Centre

London, Ontario, Canada

Institute of Neurology, Center for Neuromuscular Disease

Queen Square, London, United Kingdom

Countries

United States; Canada; United Kingdom

References

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.

Reference Type: BACKGROUND

PMID: 14718690 (View on PubMed)

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.

Reference Type: BACKGROUND

PMID: 12749331 (View on PubMed)

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.

Reference Type: BACKGROUND

PMID: 10371528 (View on PubMed)

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.

Reference Type: RESULT

PMID: 24578548 (View on PubMed)

Other Identifiers

U54RR019482-03

Identifier Type: NIH

Identifier Source: secondary_id

View Link

RDCRN 5302

Identifier Type: -

Identifier Source: org_study_id