Registry and Natural History of Epilepsy-Dyskinesia Syndromes

NCT06967727 | Recruiting

• 1 other identifier: IRB-P00050625
• Study Type: observational
• Target: 700
• Locations: 1 country
• Sites: 1

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 female patients, of all ages, who have a genetic diagnosis of epilepsy-dyskinesia syndromes. Through prospective review and molecular data analysis, the study aims to identify patterns and correlations between movement and seizure disorders, uncovering genotype-phenotype relationships. The initiative's goals are to enhance understanding of epilepsy-dyskinesia syndromes, inform precision medicine approaches, and foster international collaboration.

Conditions

Epilepsy-Dyskinesia; Epilepsy; Dyskinesia; EDS; Epilepsy-Dyskinesia Syndomes; Epilepsy in Children; Dyskinesias; Movement Disorders in Children; Neurologic Disorder; Chorea; Myoclonus; Ataxia; Dystonia Disorder; Movement Disorders

Keywords

epilepsy; Epilepsy-Dyskinesia; Epilepsy-Dyskinesia Syndrome; Dyskinesia; movement disorders; epileptic encephalopathy; neurogenetics; PRRT2; ATP1A3; GNAO1; MECP2; CACNA1A; CDKL5; FOXG1; SCN1A; SCN8A; SLC2A1; STXBP1; UBA5; ADCY5

Outcome Measures

Primary Outcomes (4)

• Creation of Biorepository

  Establish a biobank for patients with epilepsy-dyskinesia syndromes, enabling quantitative profiling of biochemical biomarkers.

  5 years

• Assess Health-Related Quality of Life

  Conduct a health-related quality of life survey on epilepsy-dyskinesia syndrome patients to understand the priorities of and impact on patients and caregivers.

  5 years

• Understanding of Disease Spectrum

  To comprehensively understand the spectrum and association of movement and seizure disorders on both clinical and molecular levels.

  5 years

• Investigate the Efficacy of Symptomatic Treatments

  Investigate the efficacy of symptomatic treatments in addressing both seizure and movement disorders, aiming to identify shared therapeutic strategies.

  5 years

Secondary Outcomes (1)

• Establish Clinical Trial Readiness

  5 years

Eligibility Criteria

• Age: 0 Years - 30 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

This study will enroll individuals diagnosed with a movement disorder due to pathogenic or likely pathogenic variants in the genes listed below. 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.

You may qualify if:

• 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.

You may not qualify if:

• Not having a pathogenic or likely pathogenic variants in the genes of interest

Sponsors & Collaborators

• Boston Children's Hospital: lead

Study Sites (1)

Boston Children's Hospital

Boston, Massachusetts, 02115, United States

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Blood and / or urine samples

MeSH Terms

Conditions

Epilepsy; Dyskinesias; Nervous System Diseases; Chorea; Myoclonus; Ataxia; Dystonic Disorders; Movement Disorders; Dystonia 12

Condition Hierarchy (Ancestors)

Brain Diseases; Central Nervous System Diseases; Neurologic Manifestations; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Central Study Contacts

Darius Ebrahimi-Fakhari, MD, PhD

CONTACT

617-355-0097; movementdisorders@childrens.harvard.edu

Josh Rong, BS

CONTACT

617-355-0903; movementdisorders@childrens.harvard.edu

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: May 4, 2025
• First Posted: May 13, 2025
• Study Start: June 1, 2025
• Primary Completion (Estimated): June 1, 2030
• Study Completion (Estimated): July 1, 2030
• Last Updated: August 17, 2025

Record last verified: 2025-08

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)