Status:
RECRUITING
Registry and Natural History of Epilepsy-Dyskinesia Syndromes
Lead Sponsor:
Boston Children's Hospital
Conditions:
Epilepsy-Dyskinesia
Epilepsy
Eligibility:
All Genders
Up to 30 years
Brief Summary
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 fema...
Detailed Description
Movement disorders in childhood encompass a range of neurologic syndromes that are characterized by abnormalities of tone, posture, the initiation or control of voluntary movements, or unwanted involu...
Eligibility Criteria
Inclusion
- 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
- Not having a pathogenic or likely pathogenic variants in the genes of interest
Key Trial Info
Start Date :
June 1 2025
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
July 1 2030
Estimated Enrollment :
700 Patients enrolled
Trial Details
Trial ID
NCT06967727
Start Date
June 1 2025
End Date
July 1 2030
Last Update
August 17 2025
Active Locations (1)
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1
Boston Children's Hospital
Boston, Massachusetts, United States, 02115