Actively Recruiting
Registry and Natural History of Epilepsy-Dyskinesia Syndromes for Genetic Movement and Seizure Disorders
Led by Boston Children's Hospital · Updated on 2025-08-17
700
Participants Needed
1
Research Sites
4 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are studying epilepsy-dyskinesia syndromes, which include movement disorders and seizures linked to genetic causes. This observational study aims to collect long-term clinical data and biological samples from patients of all ages with a confirmed genetic diagnosis. By analyzing molecular and clinical information, the study hopes to uncover patterns that improve understanding of these complex conditions and support precision medicine and international collaboration. Participants will be part of a registry and natural history study where data on clinical features, disease progression, developmental history, functionality, treatment response, and genetic variants will be gathered. Biological samples like blood, urine, and tissue will be collected to establish a biobank. The study is designed to explore genotype-phenotype correlations, assess the impact of symptoms on quality of life, and evaluate treatments over a long period. During the study, participants will undergo regular clinical assessments and provide biological samples to help researchers measure disease characteristics, treatment effects, and quality of life. Outcomes include creating a biorepository, understanding the disease spectrum, assessing treatment effectiveness, and establishing readiness for future clinical trials. The study will last for at least five years, with ongoing monitoring and data collection to support these goals.
CONDITIONS
Brief Title
Registry and Natural History of Epilepsy-Dyskinesia Syndromes
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Have at least one pathogenic or likely pathogenic variant in genes associated with epilepsy-dyskinesia syndromes, including 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, or other related genes.
- Age 0 to 30 years inclusive.
You will not qualify if you...
- Not having a pathogenic or likely pathogenic variant in the genes of interest related to epilepsy-dyskinesia syndromes.
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Up to 5 years
Participants are observed to gather comprehensive information on their movement and seizure disorders, including clinical features, progression, developmental history, and treatment response.
Periodic visits as scheduled during the study
Trial Site Locations
Total: 1 location
1
Boston Children's Hospital
Boston, Massachusetts, United States, 02115
Actively Recruiting
Research Team
D
Darius Ebrahimi-Fakhari, MD, PhD
J
Josh Rong, BS
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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