Actively Recruiting
Registry and Natural History Study for Progressive Myoclonus Epilepsy Type 1 (EPM1)
Led by Boston Children's Hospital · Updated on 2026-03-18
200
Participants Needed
1
Research Sites
311 weeks
Total Duration
On this page
Sponsors
B
Boston Children's Hospital
Lead Sponsor
E
Epilepsy Foundation
Collaborating Sponsor
AI-Summary
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.
CONDITIONS
Official Title
Registry and Natural History Study for Progressive Myoclonus Epilepsy Type 1 (EPM1)
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Molecular diagnosis of EPM1-related disease
- Access to web-based communication, including video-teleconference
- Permanent address in the United States
You will not qualify if you...
- Not having a diagnosis of EPM1-related disease
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Boston Childrens Hospital
Boston, Massachusetts, United States, 02115
Actively Recruiting
Research Team
D
Darius Ebrahimi-Fakhari, MD, PhD.
CONTACT
J
Joshua Rong, BS.
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
Not the Right Trial for You?
Explore thousands of other clinical trials that might be a better match.
Sign up to get personalized trial recommendations delivered to your inbox.
Already have an account? Log in here