PTC Therapeutics Enters Orphan Disease Pact

PTC Therapeutics, Inc. entered a collaboration with the Orphan Disease Center at the Perelman School of Medicine at the University of Pennsylvania focused on translational research for discovering and developing new treatments for orphan disorders.
 
The first initiative will focus on Translarna (ataluren) for the lysosomal storage disease Mucopolysaccharidosis I (MPS I) due to a nonsense mutation. MPS I is an inherited disorder caused by a deficiency of alpha-L-iduronidase, where cells are unable to excrete carbohydrate residues that accumulate in the lysosomes. This cellular debris buildup disrupts the cell’s normal function. There is an urgent need for new treatments for MPS I, as currently available therapies do not adequately address the symptoms of the disease.
 
PTC is initiating a multi-center, Phase II, proof-of-concept study to evaluate the safety and pharmacokinetics of Translarna in patients with nonsense mutation MPS I. Initial data is expected by the end of this year.
 
“We are excited to establish this partnership with PTC Therapeutics,” said James M. Wilson, M.D., Ph.D., director of both the Orphan Disease Center and the Gene Therapy Program. “PTC’s leadership in the development of treatments for orphan diseases and expertise in RNA biology along with our expertise in gene therapy, makes this a powerful partnership for developing new therapies in orphan diseases.”
 
“We are honored to be working with the Orphan Disease Center,” said Stuart Peltz, Ph.D., chief executive officer of PTC Therapeutics, Inc. “The initial focus will be on Translarna in MPS I, emphasizing our commitment to develop Translarna as both a product and a pipeline. In addition, the collaboration will explore other potential targets to develop new treatments for patients suffering from orphan diseases.”