Large-scale biochemical screening of therapies for NGLY1 deficiency. 2017 – 2020.
In a pioneering collaboration between a patient group, government (NCATS / NIH) and the pharmaceutical industry (Retrophin), a joint three-year effort is underway to screen hundreds of thousands of small molecules for their therapeutic potential in NGLY1 deficiency. The research collaboration will focus on the development of assays for small molecule high-throughput screening in an effort to better understand the biology of the disorder, and identify potential small molecules to be developed as a therapeutic for patients living with NGLY1 Deficiency. Retrophin will seek to continue development of compounds through pre-clinical and clinical phases, with the ultimate goal of delivering a treatment option for the NGLY1 community.