ProDGNE aims to advance the steps for impactful research in an ultra rare disease like GNE Myopathy by expanding the GNE Myopathy research network and building a long term partnership where patients are central partners and key drivers in Research and Development (R&D). 

ProDGNE aims to develop a substrate replacement approach to treat GNE Myopathy. The project fosters early (pre-clinical) stage development of an innovative class of drugs, called prodrugs, and improved delivery strategies to restore defects derived from GNE mutations. The prodrug is expected to become an active therapy when processed within cells, increasing sialic acid in GNEM patient cells and demonstrating a higher stability and better bioavailability than clinically tested drugs. Benefits for patients, when reaching clinical phases, will include reduced toxicity caused by a lower therapeutically effective dosage and better absorption, making ProDGNE a potential effective and safer oral medicine. In addition, the identification of novel biomarkers will assist in the assessment for efficacy of this therapy in clinical trials. 

The consortium will work closely with clinical and patient partners and will address the International Rare Diseases Research Consortium (IRDiRC) goals to foster the approval of therapies for rare diseases without approved options. ProDGNE will follow IRDiRC Guidelines to fill the knowledge gaps in GNEM, establish a target product profile addressing unmet medical needs, avoid delays in development, and expedite timeline of regulatory approval.