Researchers launch major study to track rare epilepsy EPM1 over time

NCT ID NCT06593951

First seen Jun 25, 2026 · Last updated Jun 27, 2026 · Updated 1 time

Summary

This study is following 200 people with a confirmed genetic diagnosis of EPM1, a rare and progressive epilepsy disorder. Researchers will collect clinical data and biological samples (blood and urine) over time to understand how the disease progresses. The goal is to identify biomarkers and define endpoints that can be used in future clinical trials for treatments that could slow or stop the disease.

What this could mean

Our plain-language read of the trial. This is informational only — not medical advice or a prediction.

What this could lead to

If successful, this study could identify key disease markers and meaningful endpoints, paving the way for future clinical trials for EPM1 treatments.

What could go wrong

This is an observational study, not a treatment trial. It will not directly benefit participants and may not yield clear biomarkers or endpoints due to the rarity and variability of the disease.

Disclaimer Read more

This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.

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Conditions

The condition(s) this trial relates to.

Myoclonus progressive myoclonus epilepsy Unverricht-Lundborg syndrome

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Contacts and locations

Study contacts

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

Locations

  • Boston Childrens Hospital

    RECRUITING

    Boston, Massachusetts, 02115, United States

    Contact Phone: •••-•••-•••• Email: •••••@•••••

    Contact Email: •••••@•••••