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.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Participants
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About 200 people
The number the study aims to enrol. It can still change while the study runs.
- Started
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Oct 2024
- Expected to finish
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Oct 2030
An estimate. End dates often move.
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
The study population consists of male and female patients of all ages with a clinical and molecular diagnosis of EPM1-related disease. The initial phase of this study will enroll a minimum of 10 individuals with EPM1-related disease. A total of 200 individuals may be entered in the study.
- Ages
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Children (under 18), adults (18 to 64) and older adults (65 and over)
- Sex
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Anyone
- Healthy volunteers
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Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
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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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
How to take part
Only the study team decides who joins. These are the ways to reach them.
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The places running it
1 site. The list below names each one and where it is.
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The official record
ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.
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A doctor treating you
A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.
Contacts and locations
Locations
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Boston Childrens Hospital
RECRUITINGBoston, Massachusetts, 02115, United States
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