The CHAnging Rare disorders of LysInE (CHARLIE) metabolism project is focused on develpoming new treatments for patients with pyridoxine-dependent epilepsy and glutaric aciduria type I. Novel therapies will be developed and validated using neuronal stem cells, zebrafish, and mouse models.
This project is led by Professor Clara van Karnebeek and includes collaborations between clinician-scientists from five countries. A major focus of the CHARLIE Project is engaging with patients and families throughout the study. We are actively recruiting US-based families to join this study. Please contact Dr. Coughlin if you are interested in joining the study for more information.
- Pyridoxine-dependent epilepsy: Current perspectives and questions for future research
- Newborn screening for pyridoxine-dependent epilepsy
- Pyridoxine Dependent Epilepsy (PDE): Overview, New Treatments, and the potential for Newborn Screening
- Association between lysine reduction therapies and cognitive outcomes in patients with pyridoxine-dependent epilepsy
- The time has come for newborn screening for pyridoxine-dependent epilepsy