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.
Get updates
Get notified about this study
Sign up to get updates when this study changes or when new studies for CSTB-RELATED DISEASE are added.
By submitting, you agree to our Terms of use
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.
Contacts and locations
Locations
-
Boston Childrens Hospital
RECRUITINGBoston, Massachusetts, 02115, United States
More trials for these conditions
Other studies related to the condition(s) this trial covers.