Registry and natural history of epilepsy-dyskinesia syndromes
Run by Boston Children's Hospital · NCT06967727 · Data updated 2026-11-12
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.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 0 Years to 30 Years |
| Sex | All |
| Enrollment | 700 (estimated) |
| Sponsor | Boston Children's Hospital Academic / other |
| Locations | 1 site (Boston, Massachusetts) |
| Status | Recruiting |
| Started | June 1, 2025 |
| Main results expected | June 1, 2030 |
| Study ends | July 2030 |
| Registry record updated | August 17, 2025 |
| Trial ID | NCT06967727 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates are people of any age who have at least one pathogenic or likely pathogenic variant in a gene known to cause epilepsy-dyskinesia syndromes.
✕Probably not a fit
People without a confirmed pathogenic or likely pathogenic genetic variant, those with clearly acquired causes of their symptoms (for example cerebral palsy or post-stroke), or those seeking an immediate therapeutic intervention may not receive direct clinical benefit from participation.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
The registry gathers longitudinal clinical data and biological samples (blood, urine, and skin/tissue) from patients with genetically confirmed epilepsy-dyskinesia syndromes. Participants undergo prospective clinical review and molecular data analysis to document symptom progression, seizure patterns, and movement disorder features. The project aims to identify genotype–phenotype relationships by linking specific genetic variants to clinical presentations. Collected data and samples are intended to support precision medicine approaches and international research collaboration.
Why it matters
Potential benefit: If successful, the registry could help clinicians diagnose patients more quickly and target therapies better by linking specific genes to characteristic symptom patterns.
How similar studies have gone: Other genetic registries and natural history studies in epilepsy and movement disorders have successfully identified genotype–phenotype links and informed research, so this registry builds on established approaches.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: * Having at least one pathogenic or likely pathogenic variant in one of the genes of interest: AARS2, ADCY5, ALG13, AP3B2, AP4B1, AP4E1, AP4M1, AP4S1, ARX, ATP1A3, CACNA1A, CACNA1E, CACNA2D2, CDKL5, CSTB, DARS2, DLAT, DLD, DNM1, EARS2, EPG5, EPM2A, FARS2, FOXG1, FRRS1L, GABRA1, GABRA2, GABRB2, GABRB3, GABRG2, GNAO1, GRIA2, GRIA4, GRIN1, GRIN2A, GRIN2B, GRIN2D, HARS2, HNRNPU, HTT, IQSEC2, IRF2BPL, KCNA2, KCNB1, KCNC1, KCNMA1, KCNQ2, KCNQ3, KCNT1, LARS2, MECP2, MEF2C, MTND5, MTTK, MTTL1, NARS2, NHLRC1, PCDH12, PCDH19, PDE10A, PDE2, PDHA1, PDHB, PDHX, PDK3, PDP1, PIGA, PIGN, PIGP, PIGQ, PIGS, PLCB1, POLG, PRRT2, PURA, RHOBTB2, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SETBP1, SETD5, SLC13A5, SLC1A2, SLC25A22, SLC2A1, SMC1A, SNX14, SPTAN1, ST3GAL3, STXBP1, SYNGAP1, SYNJ1, SZT2, TARS2, TBC1D24, UBA5, UBE3A, VAMP2, VARS2, WARS2, WDR45, WWOX, YIF1B, YWHAG, and other genes associated with epilepsy-dyskinesia syndromes. Exclusion Criteria: * Not having a pathogenic or likely pathogenic variants in the genes of interest
Where it's running
-
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
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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.