Actively Recruiting
Registry and Natural History of Epilepsy-Dyskinesia Syndromes
Led by Boston Children's Hospital · Updated on 2025-08-17
700
Participants Needed
1
Research Sites
265 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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
Official 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 one of the specified genes associated with epilepsy-dyskinesia syndromes
You will not qualify if you...
- Do not have a pathogenic or likely pathogenic variant in the genes of interest
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
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
CONTACT
J
Josh Rong, BS
CONTACT
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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