Registry for Progressive Myoclonus Epilepsy Type 1
Official title: Registry and Natural History Study for Progressive Myoclonus Epilepsy Type 1 (EPM1)
Run by Boston Children's Hospital · NCT06593951 · Data updated 2026-11-12
This study is trying to gather information and samples from people with Progressive Myoclonus Epilepsy Type 1 to better understand the disease and help develop future treatments.
Quick facts
| Study type | Observational |
|---|---|
| Sex | All |
| Enrollment | 200 (estimated) |
| Sponsor | Boston Children's Hospital Academic / other |
| Locations | 1 site (Boston, Massachusetts) |
| Status | Recruiting |
| Started | October 10, 2024 |
| Main results expected | October 1, 2029 |
| Study ends | October 1, 2030 |
| Registry record updated | March 18, 2026 |
| Trial ID | NCT06593951 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates are individuals of all ages with a molecular diagnosis of EPM1 or CSTB-null-related disease.
✕Probably not a fit
Patients without a molecular diagnosis of EPM1-related disease will not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This study aims to collect longitudinal clinical data and biological samples from patients diagnosed with Progressive Myoclonus Epilepsy Type 1 (EPM1) or CSTB-null-related diseases. It focuses on understanding the natural history of the disease and the genotype-phenotype correlations of variants causing EPM1. By utilizing remote assessments, the study seeks to alleviate the burden of on-site visits for families, while gathering critical information that could inform future interventional trials. The ultimate goal is to characterize disease progression and discover biomarkers that can serve as endpoints for upcoming therapies.
Why it matters
Potential benefit: If successful, this study could lead to a better understanding of EPM1, paving the way for the development of effective treatments.
How similar studies have gone: While studies on similar conditions have been conducted, this specific approach focusing on remote assessments for EPM1 is relatively novel.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: * Molecular diagnosis of EPM1-related disease * Access to web-based communication, including video-teleconference * Permanent address in the United States Exclusion Criteria: * Not having such a diagnosis of EPM1-related disease.
Where it's running
-
Boston Childrens Hospital
Boston, Massachusetts, United States Recruiting
Study contacts
- Study coordinator: Darius Ebrahimi-Fakhari, MD, PhD.
- Email: movementdisorders@childrens.harvard.edu
- Phone: 617-355-0097
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.