ClinicalTrials.gov record NCT06585605

A Retrospective Survey-based Multicenter Study to Delineate the Molecular and Phenotypic Spectrum of Epilepsy-dyskinesia Syndromes

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Aug 22, 2026

A Retrospective Survey-based Multicenter Study to Delineate the Molecular and Phenotypic Spectrum of Epilepsy-dyskinesia Syndromes

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.
Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.
AgeUnder 1 month old to 18 years old
SexAll
LocationUnited States
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

A multinational, retrospective survey that collects and standardizes past clinical and genetic data on epilepsy-dyskinesia syndromes. It seeks to map how movement disorders and seizures co-occur and to build a shared database. The study is observational and endorsed by the International Parkinson and Movement Disorder Society.

What it is studying. The study is gathering existing clinical histories, disease progression information, ages of onset, treatment responses, and molecular (genetic) data to look for patterns and relationships between movement disorders and epilepsy. It aims to describe the range of clinical features (phenotypes) and to identify genotype–phenotype correlations across these syndromes. The study will also examine how movement disorders affect health-related quality of life using the collected retrospective data.

What the researchers hope to learn. Create a shared, multicenter database of clinical and molecular data; better define the clinical and genetic spectrum of epilepsy-dyskinesia syndromes; identify genotype–phenotype patterns; assess the impact of movement disorders on quality of life; and inform future precision-medicine research and international collaboration.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

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 epilepsy. Addressing challenges in rare disease research -such as small, geographically dispersed patient populations and a lack of standardized protocols- the study employs a multinational retrospective survey endorsed by the International Parkinson and Movement Disorder Society. This survey seeks to collect comprehensive data on clinical features, disease progression, age of onset, genetic variants, and concurrent neurological conditions, standardizing data collection across countries to provide a unified understanding of these conditions. Through retrospective 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.

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

Inclusion criteria

  • 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 criteria

  • Not having such diagnosis and/or not presenting a movement disorder.

Study description and what participation involves

The study's detailed description, as published on ClinicalTrials.gov.

Show the detailed description from the registry

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 disorders and epilepsy. Design: Multinational Retrospective Survey: Survey Details: Endorsed by the International Parkinson and Movement Disorder Society, this multinational retrospective survey seeks to gather comprehensive data on:

  • Clinical Features and Progression: Examining developmental history and treatment responses.
  • Disease Aspects: Including the age of onset for movement disorders and seizures, genetic variants, and concurrent neurological conditions.

Data Harmonization: By standardizing data collection across countries, the survey aims to overcome barriers in rare disease research and provide a unified understanding of these conditions. Study Aims: This study seeks to broaden our understanding of the spectrum and association of movement and seizure disorders through a retrospective review. By analyzing clinical data, the study aims to identify patterns and correlations between these conditions while investigating molecular data to uncover underlying genetic and biochemical mechanisms. The ultimate goal is to enhance knowledge of how these disorders interact and progress over time, offering new insights at both clinical and molecular levels. Overarching Goals:

  • Enhance understanding of movement disorders and epilepsy.
  • Inform precision medicine approaches.
  • Foster international collaboration for rare disease research.
AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

Participation involves contributing existing clinical and genetic information to a retrospective, survey-based database. The study will collect data such as age at onset, clinical features, disease progression, genetic variant information, and treatment history from past records. The registry does not list any new tests or invasive procedures for participants.

How the study is structured. A retrospective, observational cohort study using a multinational survey to collect and harmonize previously recorded clinical and genetic data from multiple centers. No new treatments are assigned; the research analyzes existing patient records and genetic results to create a shared database for analysis.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • The registry lists this study under Epilepsy in Children; Dyskinesias; Movement Disorders in Children; Neurologic Disorder; Chorea; Myoclonus; Ataxia; Epilepsy; Dystonia Disorder; Movement Disorders. Does it apply to my diagnosis?
  • This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
  • The listed sites are in United States. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

More on CDKL5 deficiency disorder

This trial is also listed on this site under Dravet syndrome.

Clinical trials22 trials listed for CDKL5 deficiency disorderEvery trial the registry lists for CDKL5 deficiency disorder, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in CDKL5 deficiency disorder researchLatest monthly update: September 2026. Includes: EEG background changes. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
Jul 1, 2024
Primary completion
Dec 31, 2029 (estimated)
Study completion
Dec 31, 2029 (estimated)
Target enrollment
500 participants (estimated)
Last updated on registry
Mar 18, 2026
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
Boston Children's Hospital
Principal investigator
Darius Ebrahimi-Fakhari, Principal Investigator
Boston Children's Hospital
Collaborators
  • International Parkinson and Movement Disorder Society

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites (1)

Terms used on this page · explanations by MedicalUpdates.ai

Inclusion Criteria
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
Exclusion Criteria
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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