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Registry and Natural History Study for Progressive Myoclonus Epilepsy Type 1 (EPM1)
Who can join
All ages · All sexes
Full 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.
About the study
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.
Sponsor: Boston Children's Hospital · Participants: 200 · Started: Oct 10, 2024
Contact the study team
- Darius Ebrahimi-Fakhari, MD, PhD. · Phone: 617-355-0097
- Joshua Rong, BS. · Phone: 617-355-0903
Official record on ClinicalTrials.gov — NCT06593951
Locations in the U.S.
| Massachusetts | Boston Childrens Hospital, Boston |
Conditions
From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.