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Registry and Natural History Study for Progressive Myoclonus Epilepsy Type 1 (EPM1)
Sponsor: Boston Children's Hospital
Summary
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 Details
Gender
All
Age Range
Any - Any
Study Type
OBSERVATIONAL
Enrollment
200
Start Date
2024-10-10
Completion Date
2030-10-01
Last Updated
2026-03-18
Healthy Volunteers
No
Conditions
Locations (1)
Boston Childrens Hospital
Boston, Massachusetts, United States