PTC Therapeutics, a global biopharmaceutical company, has inked 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 partnership reflects both parties' commitment to developing treatments and improving the lives of those who suffer from rare diseases.
The first collaborative 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 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). As a consequence of the disease, cells are unable to excrete carbohydrate residues that accumulate in the lysosomes. This cellular debris buildup disrupts the cell's normal function, resulting in clinical manifestations of the disease. There is an urgent need for the development of new treatments for MPS I as currently available therapeutics do not adequately address the bone, CNS or cardiac symptoms of the disease.
"We are honored to be working with the Orphan Disease Center," said Stuart Peltz, Ph.D., CEO of PTC Therapeutics. "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. This alliance underscores our commitment to working with partners that are at the forefront of science and medicine to continue to develop innovative treatments for rare and neglected diseases."
PTC is initiating a multi-center, phase II, proof-of-concept study which will evaluate the safety and pharmacokinetics of Translarna in patients with nonsense mutation MPS I. Pharmacodynamic activity also will 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.