NCT00266760

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.

Trial Health

90
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
39

participants targeted

Target at P25-P50 for all trials

Timeline
Completed

Started May 2006

Longer than P75 for all trials

Geographic Reach
3 countries

6 active sites

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

December 16, 2005

Completed
3 days until next milestone

First Posted

Study publicly available on registry

December 19, 2005

Completed
4 months until next milestone

Study Start

First participant enrolled

May 1, 2006

Completed
5.2 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

July 1, 2011

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

July 1, 2011

Completed
Last Updated

May 15, 2023

Status Verified

May 1, 2023

Enrollment Period

5.2 years

First QC Date

December 16, 2005

Last Update Submit

May 11, 2023

Conditions

Episodic Ataxia SyndromeCerebellar Diseases

Eligibility Criteria

Age5 Years+
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Individuals with episodic ataxia

You may qualify if:

  • A clinically confirmed diagnosis of episodic ataxia as defined by one of the following three features:
  • Clear-cut episodes of recurrent, transient ataxia
  • Mutation confirmed in KCNA1 or CACNA1A
  • Ataxic features with a first degree relative with episodic ataxia

You may not qualify if:

  • Any other disorder known to cause episodic ataxia

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (6)

Reed Neurological Research Center, UCLA

Los Angeles, California, 90095, United States

Location

University of Kansas Medical Center

Kansas City, Kansas, 66160, United States

Location

Brigham & Women's Hospital

Boston, Massachusetts, 02115, United States

Location

University of Rochester School of Medicine

Rochester, New York, 14642, United States

Location

London Health Sciences Centre

London, Ontario, N6A 5W9, Canada

Location

Institute of Neurology, Center for Neuromuscular Disease

Queen Square, London, WC1N 3BG, United Kingdom

Location

Related Publications (4)

  • 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.

    PMID: 14718690BACKGROUND

  • 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.

    PMID: 12749331BACKGROUND

  • 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.

    PMID: 10371528BACKGROUND

  • 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.

    PMID: 24578548RESULT

Biospecimen

Retention: SAMPLES WITH DNA

Blood

MeSH Terms

Conditions

Episodic AtaxiaCerebellar Diseases

Condition Hierarchy (Ancestors)

Brain DiseasesCentral Nervous System DiseasesNervous System Diseases

Study Officials

  • Robert W. Baloh, MD

    University of California, Los Angeles

    STUDY CHAIR

  • 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

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

December 16, 2005

First Posted

December 19, 2005

Study Start

May 1, 2006

Primary Completion

July 1, 2011

Study Completion

July 1, 2011

Last Updated

May 15, 2023

Record last verified: 2023-05

Locations

GB(1)CA(1)US(4)