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Registry and Natural History Study for Progressive Myoclonus Epilepsy Type 1 (EPM1)

Recruitingn/aAges any - anyAllBoston Children's Hospital
NCT06593951 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

The Registry and Natural History Study for Progressive Myoclonus Epilepsy Type 1 (EPM1) is focused on gathering longitudinal clinical data as well as biological samples (blood and/or urine) from male and female patients, of all ages, who have a molecular diagnosis of EPM1or CSTB-null-related disease. Currently, there are no therapies that halt disease progression in any CSTB-related diseases, highlighting the urgency for translational research into this condition. The primary objective of the registry is to determine the natural history and genotype-phenotype correlations of disease-causing variants in EPM1 and CSTB-null-related disease.

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📋 Eligibility rules (as published)
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.
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What it tests

  • Not listed
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Where

1 site
Boston Childrens Hospital
Boston, United States
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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