2nd *UPDATE* from a 2023 Research Grantee
Epilepsy Foundation New England is happy to share the following update from Zainab Zaman, MBBS Josh Rong, B.Sc., and Darius Ebrahimi-Fakhari, M.D., Ph.D. They were awarded $75,000 in March 2024 at the 3rd Annual Blue Skies Challenge. Below is a summary of their findings since receiving the award.
Josh Rong, B.Sc.
Darius Ebrahimi-Fakhari, M.D., Ph.D.
Title: Registry and Natural History Study for EPM1-related Disease
We've been working on a Natural History study detailing the evolution and clinical symptoms in patient with EPM1 - a very rare form of genetic progressive epilepsy with myoclonus, which is a type of movement disorder characterized by jerky uncontrollable movements that leads to difficulty with essentially all voluntary movements. We are collecting data from patients worldwide, with patients ranging from ages 4 to 45. We are also collecting blood and urine samples from our patients in the US to better understand this disease.
We have collected information from 20 patients so far, which includes the largest number of patients with this disorder in the US. Many of our patients had several years of symptoms before they were correctly diagnosed. Most patients went from being able to walk independently to being wheelchair dependent in a short period of time after symptoms appeared. More than half of our patients also have significant anxiety and depression, further highlighting the need for a better understanding of clinical symptoms.
Our goal is to help develop a specific treatment aimed at treating this (and many more) genetic forms of epilepsy.
Epilepsy Foundation New England held its fourth Annual Blue Skies Challenge in March 2025 and awarded $155,000 to local teams advancing epilepsy research.