Periodic Reporting for period 1 - WWOXAID (A Promising Treatment of WWOX Associated Neurological Disorders)
Période du rapport: 2020-08-01 au 2022-01-31
WWOX-related epileptic encephalopathy (WOREE) syndrome, also known as early infantile epileptic encephalopathy, 28 (EIEE28, OMIM: 616211), is a very severe epileptic encephalopathy characterized by absence of language development and acquisition of walking, early-onset drug-resistant seizures, ophthalmological involvement, and a very high likelihood of premature death. In our project, WWOXAID, we aimed to set the basis for bringing into clinical development a treatment for WOREE syndrome affecting children in infancy. Using mouse models and brain organoids we were able to show that WWOX gene therapy, where an intact WWOX cDNA was introduced into neuronal cells, could reverse the phenotypes associated with WOREE syndrome. The results we obtained are currently being further developed and optimized in preclinical models to facilitate clinical testing. We hope our proof-of-concept to help advance a cure for the devastating WOREE syndrome.