Status:
RECRUITING
A Retrospective Survey-based Multicenter Study to Delineate the Molecular and Phenotypic Spectrum of Epilepsy-dyskinesia Syndromes
Lead Sponsor:
Boston Children's Hospital
Collaborating Sponsors:
International Parkinson and Movement Disorder Society
Conditions:
Epilepsy in Children
Dyskinesias
Eligibility:
All Genders
Up to 18 years
Brief Summary
The Epilepsy-Dyskinesia Study aims to advance the understanding of the clinical and molecular spectrum of epilepsy-dyskinesia syndromes, monogenic diseases that cause both movement disorders and epile...
Detailed Description
Overview: The Epilepsy-Dyskinesia Study aims to advance the understanding of the clinical and molecular spectrum of epilepsy-dyskinesia syndromes, which are monogenic diseases causing both movement di...
Eligibility Criteria
Inclusion
- 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
- Not having such diagnosis and/or not presenting a movement disorder.
Key Trial Info
Start Date :
July 1 2024
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
December 31 2029
Estimated Enrollment :
500 Patients enrolled
Trial Details
Trial ID
NCT06585605
Start Date
July 1 2024
End Date
December 31 2029
Last Update
October 15 2024
Active Locations (1)
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1
Boston Children's Hospital
Boston, Massachusetts, United States, 02115