Registry and Natural History Study for Progressive Myoclonus Epilepsy Type 1 (EPM1)

Launched by BOSTON CHILDREN'S HOSPITAL · Sep 10, 2024

Keywords

ClinConnect Summary

The Registry and Natural History Study for Progressive Myoclonus Epilepsy Type 1 (EPM1) is focused on understanding the characteristics and progression of EPM1, a rare neurological condition that affects movement and causes seizures. This study aims to collect important information and biological samples, such as blood and urine, from individuals diagnosed with EPM1 or related diseases. The goal is to gather data that can help researchers learn more about how the disease develops over time and how different genetic factors might influence its symptoms. This research is especially important because there are currently no treatments available to stop the progression of this disease.

To participate in the study, individuals of any age who have been diagnosed with EPM1-related disease and have a permanent address in the United States can apply. Participants should also have access to online communication tools, like video calls. It's essential to note that those without a diagnosis of EPM1-related disease are not eligible to join. If you decide to participate, you can expect to share information about your health and possibly provide samples to help advance research in this area. This study represents an opportunity to contribute to a better understanding of EPM1 and potentially help others in the future.

Gender

ALL

Eligibility criteria

• 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.