Registry following people with progressive myoclonus epilepsy type 1 over time
Collects long-term health data and samples from people with EPM1 of all ages.
Plain-language title generated from the registry record
Registry title: Registry and Natural History Study for Progressive Myoclonus Epilepsy Type 1 (EPM1)
Key facts
- Where
- Boston, United StatesSee the site
Where in United States
- Boston Childrens HospitalBoston, United StatesTaking people
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- Boston Children's Hospital
- Trial code
- NCT06593951
- Record updated
- 18 March 2026
- Original description
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.Read full original descriptionShow less
Registry and Natural History Study for Progressive Myoclonus Epilepsy Type 1 (EPM1)
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.
Inclusion: Molecular diagnosis of EPM1-related disease; Access to web-based communication, including video-teleconference; Permanent address in the United States.
Exclusion: Not having such a diagnosis of EPM1-related disease.