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

Recruiting now

Conditions studied: Progressive Myoclonus Epilepsy Type 1, EPM1, CSTB-related Disease, Myoclonus Epilepsies, Progressive, Unverricht-Lundborg Disease, Progressive Epilepsy and/or Ataxia With Myoclonus as a Major Feature, PME, Progressive Myoclonus-Epilepsies

In brief

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.

Key facts

Study ID

NCT06593951

Run by

Boston Children's Hospital

People needed

200

Starts

2024-10-10

Expected to finish

2030-10-01

Last updated by the study team

2026-03-18

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• Molecular diagnosis of EPM1-related disease
• Access to web-based communication, including video-teleconference
• Permanent address in the United States

You may not qualify if…

• Not having such a diagnosis of EPM1-related disease.

Where it is running

• Boston Childrens Hospital — Boston, Massachusetts, United States (enrolling)

Full record on ClinicalTrials.gov

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