Retrophin, Inc. announced a research collaboration with the Grace Wilsey Foundation and the Warren Family Research Center for Drug Discovery and Development at the University of Notre Dame surrounding the development of a novel therapeutic for patients with NGLY1 deficiency, a rare genetic disorder.

NGLY1 deficiency is believed to be caused by a deficiency in an enzyme called N-glycanase-1, which is encoded by the gene NGLY1. The condition is characterized by a variety of symptoms, including global developmental delay, movement disorder, seizures, and ocular abnormalities.

Under this collaboration, the Grace Wilsey Foundation will provide support and funding to Retrophin to enable discovery efforts that aim to validate and address a new molecular target that may be relevant to NGLY1 deficiency. In addition, the Warren Family Research Center for Drug Discovery and Development at the University of Notre Dame will also provide funding and in-kind research support to help Retrophin advance this programme.

"This collaboration with Retrophin will add momentum to our pursuit of a cure for NGLY1 deficiency," said Matt Wilsey, president and co-founder of the Grace Wilsey Foundation.

"Retrophin brings a wealth of scientific and drug development expertise to our work, and together we'll be able to make a significant impact on the lives of patients and families affected by this condition."

The initial research effort will focus on the hypothesis that a specific novel molecular target may compensate for the lack of NGLY1 in affected cells. Retrophin will apply its scientific and drug development capabilities to lead efforts towards the validation of this proposed target.

"This collaboration exemplifies Retrophin's commitment to working with patient advocacy groups and academic institutions to develop therapeutics for patients suffering from rare diseases," said Alvin Shih, M.D., executive vice president and head of research and development at Retrophin.

"We appreciate the support from the Grace Wilsey Foundation, which is leading the charge to find a cure for NGLY1 deficiency. Our team is also excited to begin collaborating with the University of Notre Dame, an emerging leader in the rare disease research community."

Kristen and Matt Wilsey founded the Grace Wilsey Foundation when their daughter Grace was diagnosed with a rare genetic disease called NGLY1 deficiency. This complex and devastating neuromuscular disease affects less than 50 known patients worldwide.