Registry and natural history of epilepsy-dyskinesia syndromes
Boston Children's Hospital · NCT06967727
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 |
|---|---|
| Enrollment | 700 (estimated) |
| Ages | 0 Years to 30 Years |
| Sex | All |
| Sponsor | Boston Children's Hospital (other) |
| Locations | 1 site (Boston, Massachusetts) |
| Trial ID | NCT06967727 on ClinicalTrials.gov |
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.
Who should consider this trial
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.
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.
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 performed: 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.
Eligibility criteria
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 this trial is running
Boston, Massachusetts
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Epilepsy-Dyskinesia, Epilepsy, Dyskinesia, EDS, Epilepsy-Dyskinesia Syndomes, Epilepsy in Children, Dyskinesias, Movement Disorders in Children