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Registry for Epilepsy-Dyskinesia Syndromes

This study is creating a registry and collecting information about Epilepsy-Dyskinesia Syndromes (EDS), which are conditions involving both seizures (epilepsy) and abnormal movements (dyskinesia). Researchers are gathering clinical data and biological samples (like blood or urine) from people aged 0 to 30 who have a genetic diagnosis of EDS. The goal is to better understand these syndromes, including how genetic changes relate to symptoms, and to help develop more personalized treatments. This study does not involve any specific interventions or treatments.

Study design
This is an observational study aiming to enroll 700 participants. It is not testing a specific drug or treatment.
What's involved
Not specified in the trial record.
Compensation
Not stated in the trial record.
Follow-up
The study aims to assess health-related quality of life and understand the disease spectrum over 5 years.

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NCT06967727

Registry and Natural History of Epilepsy-Dyskinesia Syndromes

Recruiting
Not specifiedAges 0–30Observational
Boston Children's Hospital
~700 participants
Updated 2025-08-17 on ClinicalTrials.gov

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Creation of Biorepository
Measured over 5 years
+3 more outcomes measured

Conditions

Epilepsy-Dyskinesia
Epilepsy
Dyskinesia
EDS
Epilepsy-Dyskinesia Syndomes
Epilepsy in Children
Dyskinesias
Movement Disorders in Children
Neurologic Disorder
Chorea
Myoclonus
Ataxia
Dystonia Disorder
Movement Disorders

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Where it's being run

1 sites across 1 states
Massachusetts1

Who to contact

Darius Ebrahimi-Fakhari, MD, PhD
[email protected]
617-355-0097
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Eligibility criteria

Inclusion

Having at least one pathogenic or likely pathogenic variant in one of the genes of interest:

Exclusion

Not having a pathogenic or likely pathogenic variants in the genes of interest

What this trial measures

  • Creation of Biorepository5 years

    Establish a biobank for patients with epilepsy-dyskinesia syndromes, enabling quantitative profiling of biochemical biomarkers.

  • Assess Health-Related Quality of Life5 years

    Conduct a health-related quality of life survey on epilepsy-dyskinesia syndrome patients to understand the priorities of and impact on patients and caregivers.

  • Understanding of Disease Spectrum5 years

    To comprehensively understand the spectrum and association of movement and seizure disorders on both clinical and molecular levels.

  • Investigate the Efficacy of Symptomatic Treatments5 years

    Investigate the efficacy of symptomatic treatments in addressing both seizure and movement disorders, aiming to identify shared therapeutic strategies.