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

Part of paid clinical trials in Boston, Massachusetts.

Sponsor
Boston Children's Hospital
Study ID
NCT06585605
Status
Recruiting
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Conditions

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

Eligibility Criteria

Sex
ALL
Age
0 Years - 18 Years
Healthy Volunteers
Not accepted

Study Details

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.

Key Dates

Start date
Jul 1, 2024
Status verified
Mar 2026
Primary completion
Dec 31, 2029
Completion
Dec 31, 2029

Study Design

Enrollment
500 participants (estimated)

Primary Outcome Measure

Creation of a Shared Clinical Database [ Time Frame: 1 year ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
Boston Children's HospitalBostonMassachusetts02115
Darius Ebrahimi-Fakhari, MD, PhD
[email protected]
617-355-0097
Darius Ebrahimi-Fakhari, MD, PhD (PRINCIPAL_INVESTIGATOR)
Vicente Quiroz, MD (SUB_INVESTIGATOR)

Find similar trials in Boston, MA

By condition
Epilepsy
By specialty
NeurologyBrain disorders
By research site
Boston Children's Hospital· Boston, MA

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