Ignite Creation Date:
2024-05-05 @ 12:11 PM
Last Modification Date:
2024-10-26 @ 9:21 AM
Study NCT ID:
NCT00266760
Status:
COMPLETED
Last Update Posted:
2023-05-15
First Post:
2005-12-16
Brief Title:
Characteristics of Episodic Ataxia Syndrome
Sponsor:
University of California Los Angeles
Organization:
University of California Los Angeles
Study Overview
Official Title:
Episodic Ataxia Syndrome Genotype-phenotype Correlation and Longitudinal Study
Status:
COMPLETED
Status Verified Date:
2023-05
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
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 EAs 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 electromyographynerve 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
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 electromyographynerve 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 Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
None
Is a FDA Regulated Device?:
None
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| U54RR019482-03 | NIH | None | httpsreporternihgovquickSearchU54RR019482-03 |