Ignite Creation Date:
2025-12-25 @ 3:27 AM
Ignite Modification Date:
2025-12-28 @ 2:34 PM
Study NCT ID:
NCT06585605
Status:
RECRUITING
Last Update Posted:
2024-10-15
First Post:
2024-09-03
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
A Retrospective Survey-based Multicenter Study to Delineate the Molecular and Phenotypic Spectrum of Epilepsy-dyskinesia Syndromes
Sponsor:
Boston Children's Hospital
Organization:
Study Overview
Official Title:
A Retrospective Survey-based Multicenter Study to Delineate the Molecular and Phenotypic Spectrum of Epilepsy-dyskinesia Syndromes
Status:
RECRUITING
Status Verified Date:
2024-10
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:
The Epilepsy-Dyskinesia Study aims to advance the understanding of the clinical and molecular spectrum of epilepsy-dyskinesia syndromes, monogenic diseases that cause both movement disorders and epilepsy. Addressing challenges in rare disease research -such as small, geographically dispersed patient populations and a lack of standardized protocols- the study employs a multinational retrospective survey endorsed by the International Parkinson and Movement Disorder Society. This survey seeks to collect comprehensive data on clinical features, disease progression, age of onset, genetic variants, and concurrent neurological conditions, standardizing data collection across countries to provide a unified understanding of these conditions. Through retrospective review and molecular data analysis, the study aims to identify patterns and correlations between movement and seizure disorders, uncovering genotype-phenotype relationships. The initiative\'s goals are to enhance understanding of epilepsy-dyskinesia syndromes, inform precision medicine approaches, and foster international collaboration.
Detailed Description:
Overview: The Epilepsy-Dyskinesia Study aims to advance the understanding of the clinical and molecular spectrum of epilepsy-dyskinesia syndromes, which are monogenic diseases causing both movement disorders and epilepsy.
Design: Multinational Retrospective Survey:
Survey Details: Endorsed by the International Parkinson and Movement Disorder Society, this multinational retrospective survey seeks to gather comprehensive data on:
* Clinical Features and Progression: Examining developmental history and treatment responses.
* Disease Aspects: Including the age of onset for movement disorders and seizures, genetic variants, and concurrent neurological conditions.
Data Harmonization: By standardizing data collection across countries, the survey aims to overcome barriers in rare disease research and provide a unified understanding of these conditions.
Study Aims: This study seeks to broaden our understanding of the spectrum and association of movement and seizure disorders through a retrospective review. By analyzing clinical data, the study aims to identify patterns and correlations between these conditions while investigating molecular data to uncover underlying genetic and biochemical mechanisms. The ultimate goal is to enhance knowledge of how these disorders interact and progress over time, offering new insights at both clinical and molecular levels.
Overarching Goals:
1. Enhance understanding of movement disorders and epilepsy.
2. Inform precision medicine approaches.
3. Foster international collaboration for rare disease research.
Design: Multinational Retrospective Survey:
Survey Details: Endorsed by the International Parkinson and Movement Disorder Society, this multinational retrospective survey seeks to gather comprehensive data on:
* Clinical Features and Progression: Examining developmental history and treatment responses.
* Disease Aspects: Including the age of onset for movement disorders and seizures, genetic variants, and concurrent neurological conditions.
Data Harmonization: By standardizing data collection across countries, the survey aims to overcome barriers in rare disease research and provide a unified understanding of these conditions.
Study Aims: This study seeks to broaden our understanding of the spectrum and association of movement and seizure disorders through a retrospective review. By analyzing clinical data, the study aims to identify patterns and correlations between these conditions while investigating molecular data to uncover underlying genetic and biochemical mechanisms. The ultimate goal is to enhance knowledge of how these disorders interact and progress over time, offering new insights at both clinical and molecular levels.
Overarching Goals:
1. Enhance understanding of movement disorders and epilepsy.
2. Inform precision medicine approaches.
3. Foster international collaboration for rare disease research.
Study Oversight
Has Oversight DMC:
False
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?: