We are recruiting patients and families for the CHARLIE metabolism Project (CHAnging Rare disorder of LysINe metabolism). This is an international collaboration focused on developing novel therapies for patients with pyridoxine-dependent epilepsy (PDE) and glutaric aciduria type I (GA I). Both substrate reduction therapy (an upstream block of lysine metabolism) and gene replacement therapy will be trialed in model systems such as neuronal stem cells, mouse, and zebrafish models. The CHARLIE project is led by Professor Clara van Karnebeek at the University of Amsterdam UMC in the Netherlands.
Although this is a basic-research focused project, we also want to work closely with patients and families in order to describe the needs and wishes of families and to define goals of care that are essential to improve quality of life. This project (referred to as “patients in the lead”) is led by Hanna Dekker who is the director of the VKS (a Dutch patient support organization). https://www.stofwisselingsziekten.nl/
If you are interested in more information or in participating, please contact Dr. Curtis Coughlin II at the University of Colorado (Curtis.Coughlin@cuanschutz.edu, 303.724.3839)