Registry for Progressive Myoclonus Epilepsy Type 1
Registry and Natural History Study for Progressive Myoclonus Epilepsy Type 1 (EPM1)
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 |
|---|---|
| Enrollment | 200 (estimated) |
| Sex | All |
| Sponsor | Boston Children's Hospital Academic / other |
| Locations | 1 site (Boston, Massachusetts) |
| Trial ID | NCT06593951 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates are individuals of all ages with a molecular diagnosis of EPM1 or CSTB-null-related disease.
Not a fit: Patients without a molecular diagnosis of EPM1-related disease will not benefit from this study.
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 performed: While studies on similar conditions have been conducted, this specific approach focusing on remote assessments for EPM1 is relatively novel.
Eligibility criteria
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 this trial is running
Boston, Massachusetts
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.