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.
Molecular diagnosis of EPM1-related disease
Access to web-based communication, including video-teleconference
Permanent address in the United States
Not having such a diagnosis of EPM1-related disease.
The study population consists of male and female patients of all ages with a clinical and molecular diagnosis of EPM1-related disease. The initial phase of this study will enroll a minimum of 10 individuals with EPM1-related disease. A total of 200 individuals may be entered in the study.
Cohort
Prospective
Not listed
Unified Myoclonus Rating Scale (UMRS)
Perform longitudinal Unified Myoclonus Rating Scale (UMRS) assessments and clinical interviews via video-teleconference in EPM1 patients to track functional impairment and disease progression.
Creation of Biorepository
Establish a biobank for patients with CSTB mutations, including EPM1 and CSTB-null disease, enabling quantitative profiling of biochemical biomarkers.
Assess Health-Related Quality of Life
Conduct a health-related quality of life survey on EPM1 and CSTB-null disease patients to understand the priorities of and impact on patients and caregivers.
Establish clinical trial readiness
To facilitate an early diagnosis, enable counseling and anticipatory guidance of affected families and help define clinically meaningful endpoints for future interventional trials.
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Boston Children's Hospital
Lead sponsor
Epilepsy Foundation
Collaborator
