Registry and Natural History Study for Progressive Myoclonus Epilepsy Type 1 (EPM1)
This study is a registry and natural history study for people with Progressive Myoclonus Epilepsy Type 1 (EPM1), also known as Unverricht-Lundborg disease. It aims to collect information and biological samples (blood and/or urine) from individuals of all ages who have a molecular diagnosis of EPM1 or a related condition called CSTB-null-related disease. There are currently no treatments that stop the disease from getting worse, so this study is important for understanding how EPM1 progresses. By gathering this information, researchers hope to better understand the disease and identify ways to measure its progression, which is crucial for developing future treatments. You can join if you have a molecular diagnosis of EPM1 and live in the United States with access to web-based communication. The study's status is unclear.
- Study design
- This is an observational study planning to enroll 200 participants. It is not testing any specific intervention or drug.
- What's involved
- Not specified in the trial record.
- Compensation
- Not stated in the trial record.
- Follow-up
- The study measures outcomes like the Unified Myoclonus Rating Scale (UMRS) and Health-Related Quality of Life at 5 years.
AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.
Registry and Natural History Study for Progressive Myoclonus Epilepsy Type 1 (EPM1)
At a glance
Conditions
NCT06593951
Where you'd take part
This study runs at 1 site. They're the same protocol — you choose where, and that choice sets who your contact draft is addressed to.
Boston Childrens Hospital
Boston, Massachusettsstudy coordinator listed
Recruiting
Sites open and close at different times, so the status above is per site — it can differ from the study's overall status.
Who to contact
Opens a ready-to-send draft in your own email app — review before sending.
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Inclusion
Exclusion
What this trial measures
- Unified Myoclonus Rating Scale (UMRS)5 years
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 Biorepository5 years
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 Life5 years
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.