Registry and Natural History Study for Progressive Myoclonus Epilepsy Type 1 (EPM1)
Boston Children's Hospital
200 participants
Oct 10, 2024
OBSERVATIONAL
Conditions
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.
Eligibility
Inclusion Criteria3
- Molecular diagnosis of EPM1-related disease
- Access to web-based communication, including video-teleconference
- Permanent address in the United States
Exclusion Criteria1
- Not having such a diagnosis of EPM1-related disease.
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Locations(1)
View Full Details on ClinicalTrials.gov
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NCT06593951