A Retrospective Survey-based Multicenter Study to Delineate the Molecular and Phenotypic Spectrum of Epilepsy-dyskinesia Syndromes

NCT06585605 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 500

Last updated 2026-03-18

No results posted yet for this study

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.

Conditions

  • Epilepsy in Children
  • Dyskinesias
  • Movement Disorders in Children
  • Neurologic Disorder
  • Chorea
  • Myoclonus
  • Ataxia
  • Epilepsy
  • Dystonia Disorder
  • Movement Disorders

Sponsors & Collaborators

Eligibility

Min Age
0 Years
Max Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2024-07-01
Primary Completion
2029-12-31
Completion
2029-12-31

Countries

  • United States

Study Locations

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Entities

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06585605 on ClinicalTrials.gov