RECRUITING

Registry and Natural History of Epilepsy-Dyskinesia Syndromes

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

The Registry and Natural History of Epilepsy-Dyskinesia Syndromes is focused on gathering longitudinal clinical data as well as biological samples (blood, urine, and/or skin/tissue) from male and female patients, of all ages, who have a genetic diagnosis of epilepsy-dyskinesia syndromes. Through prospective 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.

Official Title

Registry and Natural History of Epilepsy-Dyskinesia Syndromes

Quick Facts

Study Start:2025-06-01
Study Completion:2030-07
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT06967727

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:0 Years to 30 Years
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:No
Standard Ages:CHILD, ADULT
Inclusion CriteriaExclusion Criteria
  1. * Having at least one pathogenic or likely pathogenic variant in one of the genes of interest:
  1. * Not having a pathogenic or likely pathogenic variants in the genes of interest

Contacts and Locations

Study Contact

Darius Ebrahimi-Fakhari, MD, PhD
CONTACT
617-355-0097
movementdisorders@childrens.harvard.edu
Josh Rong, BS
CONTACT
617-355-0903
movementdisorders@childrens.harvard.edu

Study Locations (Sites)

Boston Children's Hospital
Boston, Massachusetts, 02115
United States

Collaborators and Investigators

Sponsor: Boston Children's Hospital

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2025-06-01
Study Completion Date2030-07

Study Record Updates

Study Start Date2025-06-01
Study Completion Date2030-07

Terms related to this study

Keywords Provided by Researchers

  • epilepsy
  • Epilepsy-Dyskinesia
  • Epilepsy-Dyskinesia Syndrome
  • Dyskinesia
  • movement disorders
  • epileptic encephalopathy
  • neurogenetics
  • PRRT2
  • ATP1A3
  • GNAO1
  • MECP2
  • CACNA1A
  • CDKL5
  • FOXG1
  • SCN1A
  • SCN8A
  • SLC2A1
  • STXBP1
  • UBA5
  • ADCY5

Additional Relevant MeSH Terms

  • 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