The Orphan Disease Center wishes to establish alliances with the biopharmaceutical industry in areas of mutual interest. Please contact Dr. Jim Wilson to explore these opportunities.
PTC Therapeutics, Inc. (Nasdaq: PTCT) is collaborating with the Orphan Disease Center to advance translational research for discovery and development of new treatments for orphan disorders. The first collaborative initiative focuses on Translarna (ataluren) for the lysosomal storage disease Mucopolysaccharidosis I (MPS I) due to a nonsense mutation. MPS I is an inherited lysosomal storage disorder caused by a deficiency of alpha-L-iduronidase, a lysosomal enzyme involved in the breakdown of complex carbohydrates known as glycosaminoglycans (GAGs). PTC is initiating a multi-center, Phase 2, proof-of-concept study which will evaluate the safety and pharmacokinetics of Translarna in patients with nonsense mutation MPS I. Pharmacodynamic activity will also be explored by an assessment of GAG levels in cerebrospinal fluid, urine and blood. Initial data from this study is expected by the end of 2015. See the press release for additional information.
REGENXBIO Inc., a leading biotechnology company in gene therapy, has entered into license and research agreements with the University of Pennsylvania (Penn) related to the delivery of AAV vectors for the treatment of MPS I and MPS II, also known as Hurler syndrome and Hunter syndrome, respectively. These agreements provide REGENXBIO with exclusive access to key technologies and resources that the Company plans to apply in the development of first-in-class treatments for MPS I and MPS II using its proprietary NAV® Technology. See the press release for more information.