Registry and Natural History Study for Progressive Myoclonus Epilepsy Type 1 (EPM1)
Recruiting · NCT06593951 · Observational (researchers observe without assigning treatment) · Lead sponsor: Boston Children's Hospital
View the official record on ClinicalTrials.gov →What this trial is about
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.
Who can take part
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.
Where it is running
1 location listed across 1 US state.
- Boston Childrens Hospital - Boston, Massachusetts, United States