Translarna for Mucopolysaccharidosis Granted US and EMA Orphan Drug Designation

Margarida Azevedo, MSc avatar

by Margarida Azevedo, MSc |

PTC TherapeuticsPTC Therapeutics, Inc., a biopharmaceutical company with a focus on the discovery and development of orally administered, proprietary small molecule drugs that target post-transcriptional control processes, has just announced one of its leading pipeline products, Translarna™ (ataluren), has received orphan-drug designation from the US Food and Drug Administration and European Medicines Agency (EMA) as a treatment for Mucopolysaccharidosis I (MPS I). This marks the third indication for Translarna that has received an ODD, with the previous two being Duchenne muscular dystrophy and cystic fibrosis.

MPS I is a genetic disorder that results from a specific enzyme deficiency that works to breakdown the byproducts of cellular processes. Symptoms range from deformities to organ dysfunction and neurological affectation. It is estimated to affect 1 out of every 100,000 newborns, with the less severe form of the disease (attenuated MPS I) occurring in approximately 1 out of every 500,000 births. Current MPS I therapies remain inadequate in addressing the many serious effects of the disease, and patient outcome is still quite poor.

Translarna is a therapy that restores functional protein in patients with a nonsense mutation. In preclinical studies, Translarna successfully showed the ability to cross the blood-brain barrier, and skeletal and cardiac tissues, and the ability to reduce GAG levels without signs of cell toxicity. The treatment is formulated to be administered systemically, making it a potential treatment for the cardiac and neurological affectations of MPS I.

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“The receipt of orphan-drug designation in MPS I from both the FDA and the EMA further supports the broad potential applicability of Translarna across numerous nonsense mutation based disorders,” said Stuart Peltz, Ph.D., CEO of PTC Therapeutics, Inc. “Our goal is to continue to pursue the development of this therapy for DMD, CF and MPS I, and other indications in order to help treat conditions where there is high unmet medical need. With over twenty publications by independent investigators demonstrating Translarna’s activity across numerous pre-clinical nonsense mutation-based models, Translarna truly has the potential to be a pipeline within a product. We look forward to confirming this activity through additional clinical proof-of-concept studies beginning in 2015.”

The FDA’s ODD will provide Translarna additional grant funding opportunities, tax benefits, FDA user-fee benefits, and 7 years of market exclusivity within the territory upon approval. The EMA’s ODD grants the drug 10 years of market exclusivity, as well as sponsor benefits, such as protocol assistance, and reductions or exemptions in regulatory fees.