NGLY1 COLLABORATION

Travere Therapeutics is participating in a Cooperative Research and Development Agreement (CRADA) – a three-way research collaboration – with the National Institutes of Health (NIH) National Center for Advancing Translational Sciences (NCATS) and the patient advocacy foundation CDG Care to better understand the biology of N-glycanase 1 (NGLY1) deficiency and to identify potential therapeutics for patients.

Patient Need

NGLY1 deficiency is a complex neurological syndrome resulting from a shortage of the enzyme N-glycanase 1. This enzyme assists in the removal of dysfunctional proteins from the body, and has other regulatory functions. Symptoms and severity of this disorder can vary dramatically among affected individuals and have been reported to include developmental delays, movement disorder, weak muscle tone, liver abnormalities, seizures and an inability to produce tears. There are currently no approved therapeutic options for NGLY1 deficiency. Learn more about NGLY1 deficiency.

Our Approach

In conjunction with NIH and CDG Care, we hope to drive the discovery of the first approved therapy for NGLY1 deficiency. The collaborators are developing assays for small molecule high-throughput screening in an effort to better understand the biology of the disorder and identify potential compounds that can be developed as a therapeutic. If identified, Travere Therapeutics will seek to continue development of identified compounds through pre-clinical and clinical phases, with the goal of delivering a treatment option for the NGLY1 community.