PTC Therapeutics announced that the Food and Drug Administration (FDA) has granted Orphan Drug designation to Translarna (ataluren) for the treatment of patients with Mucopolysaccharidosis I (MPS I). Translarna is a protein restoration therapy designed to enable the formation of a functioning protein in patients with genetic disorders caused by a nonsense mutation.

In preclinical models of MPS I, Translarna demonstrated that it crosses the blood-brain barrier and penetrates skeletal and cardiac tissues. The same preclinical models indicate that Translarna treatment reduces GAG levels in multiple tissues with no observed signs of cell toxicity or stress. Observations from the preclinical models demonstrates that Translarna has potential to address the cardiac and neurological defects associated with nonsense mutation MPS I.

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Previously Translarna was granted Orphan Drug designation for Duchenne muscular dystrophy and cystic fibrosis.

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