There has been a LOT going on in our MPS II world as of late, funding an MPS II research grant being one of the lot! Funding research provides hope, excitement, and the possibility that perhaps our sons with MPS II (including the yet to be diagnosed sons), might have a different path. We need hope like we need air. To our donors who made this research, this hope, our ability to breathe a little easier possible, THANK YOU.
This spring we funded $65,000CAD to Dr. Laura Rigon of Italy. Below is some more information. If you have questions, please don’t hesitate to ask! Our board sure had questions and fortunately, we were able to ask our medical advisory board of doctors, as well as Dr. Rigon, for their thoughts.
Title: A drug screening to find new therapies for MPS II
Mucopolysaccharidosis type II (MPS II) is a rare X-linked lysosomal storage disorder caused by the deficit of the iduronate 2-sulfatase enzyme, leading to storage of glycosaminoglycans in all organs and tissues. In addition to the important systemic clinical features, MPS II is characterized by a heavy neurological involvement in the severe form. Great strides have been made in the treatment of MPS II over the past 20 years with the development of enzyme replacement therapy, hematopoietic stem cell transplantation and gene therapy. However, they still have several limitations, mainly in the treatment of neurological involvement, which is present in about 2/3 of patients. Therefore, to find therapies able of treating the central nervous system (CNS) pathology remains a major goal.
The main objective of this project is to find drugs able to cross the blood-brain barrier and to cure the neurological involvement in this disease. For this purpose, we will perform a drug screening of a CNS- penetrant compound library by using human iPSC-derived neuronal stem cells. This will allow to evaluate the efficacy of 516 molecules on neurological cells, thus having a greater reliability on the possible efficacy in vivo. Based on the literature, we expect to find 6 potential therapeutic molecules. These compounds will then be tested in vivo in a MPS II fruit fly (Drosophila melanogaster) model to confirm their efficacy in a more complex system. This approach will pave the way for new treatments for neurological pathology in MPS II. Moreover, if already approved by the FDA they could be used in drug repurposing and be directly evaluated in clinical trials in patients, significantly reducing the time for a new therapy.