Characteristics of Episodic Ataxia Syndrome | NCT00266760

Studies
Characteristics of Episodic Ataxia Syndrome

NCT00266760

Sponsor

University of California, Los Angeles

Status

Completed

Last Update Posted

May 15, 2023Actual

Enrollment

39Actual

Phase

Not provided

Conditions

Episodic Ataxia Syndrome
Cerebellar Diseases

Interventions

Not provided

Countries

United States
Canada
United Kingdom

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

ID	Type	Description	Link
U54RR019482-03	U.S. NIH Grant/Contract		View source

Status Module

Record Verification Date

May 2023

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

May 2006

Primary Completion Date

Jul 2011Actual

Completion Date

Jul 2011Actual

First Submitted Date

Dec 16, 2005

First Submission Date that Met QC Criteria

Dec 16, 2005

First Posted Date

Dec 19, 2005Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

May 11, 2023

Last Update Posted Date

May 15, 2023Actual

Name	Class
Office of Rare Diseases (ORD)	NIH
Rare Diseases Clinical Research Network	NETWORK

Description Module

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.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Not provided

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

39Actual

Eligibility Module

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

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

5 Years

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

Individuals with episodic ataxia

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
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

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Reed Neurological Research Center, UCLA		Los Angeles	California	90095	United States
University of Kansas Medical Center

References Module

Citations

PubMed Identifier	Type	Citation	Retractions
14718690	Background	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.
12749331	Background	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.

ID	Term
D001927	Brain Diseases
D002493	Central Nervous System Diseases
D009422	Nervous System Diseases