Understanding epilepsy-dyskinesia syndromes in children
Official title: A Retrospective Survey-based Multicenter Study to Delineate the Molecular and Phenotypic Spectrum of Epilepsy-dyskinesia Syndromes
Run by Boston Children's Hospital · NCT06585605 · Data updated 2026-11-12
This study is trying to learn more about epilepsy-dyskinesia syndromes in children by gathering information from different countries to see how these movement and seizure disorders are related.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 0 Years to 18 Years |
| Sex | All |
| Enrollment | 500 (estimated) |
| Sponsor | Boston Children's Hospital Academic / other |
| Locations | 1 site (Boston, Massachusetts) |
| Status | Recruiting |
| Started | July 1, 2024 |
| Main results expected | December 31, 2029 |
| Study ends | December 31, 2029 |
| Registry record updated | March 18, 2026 |
| Trial ID | NCT06585605 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates for this study are children aged 0-18 years with a movement disorder and a pathogenic or likely pathogenic genetic variant associated with epilepsy-dyskinesia syndromes.
✕Probably not a fit
Patients without a diagnosis of a movement disorder or those not presenting with a relevant genetic variant may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This study aims to enhance the understanding of epilepsy-dyskinesia syndromes, which are genetic disorders causing both movement disorders and epilepsy in children. It employs a multinational retrospective survey endorsed by the International Parkinson and Movement Disorder Society to collect comprehensive data on clinical features, disease progression, and genetic variants. By standardizing data collection across various countries, the study seeks to identify patterns and correlations between movement and seizure disorders, ultimately uncovering genotype-phenotype relationships. The goal is to provide new insights into these conditions at both clinical and molecular levels.
Why it matters
Potential benefit: If successful, this study could lead to improved diagnosis and treatment strategies for children with epilepsy-dyskinesia syndromes.
How similar studies have gone: While this approach is novel in its specific focus on epilepsy-dyskinesia syndromes, similar studies have shown success in advancing understanding of rare genetic disorders.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: * Children between 0 - 18 years of age with a movement disorder and a pathogenic or likely pathogenic variant in one of the genes of interest: AARS2 ALG13 AP3B2 AP4B1 AP4E1 AP4M1 AP4S1 ARX ATP1A3 CACNA1A CACNA1E CACNA2D2 CDKL5 CSTB DARS2 DLAT DLD DNM1 EARS2 EPG5 FARS2 FOXG1 FRRS1L GABRA1 GABRA2 GABRB2 GABRB3 GABRG2 GRIA2 GRIA4 GRIN1 GRIN2A GRIN2B GRIN2D GNAO1 HARS2 HNRNPU IQSEC2 KCNA2 KCNB1 KCNC1 KCNMA1 KCNQ2 KCNQ3 KCNT1 LARS2 MECP2 MEF2C MTND5 MTTL1 MTTK NARS2 NHLRC1 PDE10A PDE2 PCDH12 PCDH19 PDK3 PIGP PIGQ PIGS PIGN POLG PDHA1 PDHB PDHX PRRT2 PURA RHOBTB2 SCN1A SCN1B SCN2A SCN8A SCN9A SLC13A5 SLC1A2 SLC2A1 SLC25A22 SMCA1 SNP14 ST3GAL3 STXBP1 SPTAN1 SYNGAP1 TBC1D24 TBL1WL1 TARS2 UBA5 UBE3A VAMP2 VARS2 WARS2 WDOX WDR45 YIF1B YWHAG Exclusion Criteria: * Not having such diagnosis and/or not presenting a movement disorder.
Where it's running
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Boston Children's Hospital
Boston, Massachusetts, United States Recruiting
Study contacts
- Study coordinator: Darius Ebrahimi-Fakhari, MD, PhD.
- Email: movementdisorders@childrens.harvard.edu
- Phone: 617-355-0097
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
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Registry and natural history of epilepsy-dyskinesia syndromes
This registry will collect health data and biological samples from people of all ages who have a genetic diagnosis of epilepsy-dyskinesia syndromes to see how their genes relate to their movement and seizure symptoms over time.
-
Registry for pediatric deep brain stimulation outcomes
This study is creating a database to collect information on how deep brain stimulation helps children with movement disorders like dystonia and Tourette syndrome, to see how safe and effective the treatment is.
-
Registry and biobank for neuroimmunological diseases
This study is trying to see if certain antibodies in the brain are linked to neurological disorders like encephalopathy and psychosis, and how they might affect patients' health.
-
Sleep and Music for Kids with Epilepsy
This trial tests if a music-based program can improve sleep and health for children with epilepsy and their parents.
-
Cognitive Behavioral Play Therapy for Children with Epilepsy
This study is testing if Cognitive Behavioral Play Therapy can help improve the quality of life for children aged 6 to 10 with epilepsy compared to regular free play.
-
A network to improve care for people with epilepsy
This study is trying to see if a new network can improve care and health outcomes for people with epilepsy by bringing together doctors, patients, and researchers to share and use health data.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.