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

Recruiting Observational Study
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
No Study Drug Researchers observe your health over time — no experimental treatment is given.
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At a Glance
Sex
Any
Study type
Observational
Participants needed
200 (estimated)
Sponsor
Boston Children's Hospital · Other
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About This Trial
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, high…
Trial Locations
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Eligibility Criteria
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.
Contacts

Darius Ebrahimi-Fakhari, MD, PhD.

617-355-0097

movementdisorders@childrens.harvard.edu

CONTACT

Joshua Rong, BS.

617-355-0903

movementdisorders@childrens.harvard.edu

CONTACT