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Translarna (Ataluren): PTC Therapeutics’ New FDA Orphan Drug Designation For Mucopolysaccharidos I

December 14, 2014

PTC Therapeutics receives FDA Orphan Drug Designation (ODD) on December 10th, for its lead product candidate, Translarna (Ataluren), for the treatment of Mucopolysaccharidosis Type I.

Mucopolysaccharidosis (MPS), is part of the rare disease group, Lysosomal Storage Disorders (LSDs). LSDs are a group of rare inherited metabolic disorders that are usually progressive, resulting in a patient’s debilitating health. LSDs are made up of over 40 disorders, where each disorder is caused by a deficiency of a specific enzyme that is responsible for the metabolism of lipids, glycoproteins, or mucopolysaccharides. Several distinct clinical types and numerous subtypes of MPS have been identified  based on the name of the enzyme deficiency :

•   MPS I H Hurler a-L-Iduronidase
•   MPS I S Scheie a-L-Iduronidase
•   MPS I H-S Hurler-Scheie a-L-Iduronidase
•   MPS II Hunter Iduronate sulfatase
•   MPS III A Sanfilippo A Heparan N-sulfatase
•   MPS III B Sanfilippo B a-N-Acetylglucosaminidase
•   MPS III C Sanfilippo C Acetyl CoA: a-glycosaminide acetyltransferase
•   MPS III D Sanfilippo D N-Acetylglucosamine 6-sulfatase
•   MPS IV A Morquio A Galactose 6-sulfatase
•   MPS IV B Morquio B B-Galactosidase
•   MPS VI Maroteaux-Lamy(arylsulfatase B) N-Acetylgalactosamine 4-sulfatase
•   MPS VII Sly B-Glucuronidase
•   MPS IX Hyaluronidase
•   MPS II I-Cell N-acetylglucosamine-1-phosphotransferase
•   MPS III Psuedo-Hurler polydystrophy N-acetylglucosamine-1-phosphotransferase.

MPS I is caused by a deficiency of an enzyme, alpha-L-Iduronidase. MPS I is also referred to as Hurler, Hurler-Scheie, and Scheie Syndromes. MPS I occurs in approximately 1/100,000 newborns globally.

Currently in the US, Aldurazyme (Laronidase) is approved by the FDA for patients with Hurler and Hurler-Scheie forms of Mucopolysaccharidosis I (MPS I), and for patients with the Scheie form who have moderate to severe symptoms. Aldurazyme is an Enzyme Replacement Therapy (ERT) injection for MPS I. In the European Union (EU), Aldurazyme is approved for MPS I to treat the non-neurological symptoms of the disease.

Translarna, is a novel, orally administered small-molecule compound for the treatment of genetic disorders due to nonsense mutation. Per PTC Therapeutics’ website:

“Nonsense mutations are implicated in a variety of genetic disorders and create a premature stop signal in the translation of the genetic code contained in mRNA, which prevents the production of full-length, functional proteins. We believe that ataluren interacts with the ribosome, which is the component of the cell that decodes the mRNA molecule and manufactures proteins, to enable the ribosome to read through premature nonsense stop signals on mRNA and allow the cell to produce a full-length, functional protein. As a result, we believe that ataluren has the potential to be an important therapy for muscular dystrophy, cystic fibrosis and other genetic disorders for which a nonsense mutation is the cause of the disease.”

Ataluren also has FDA ODD for the following indications:

•   Cystic Fibrosis resulting from a nonsense mutation, nmCF (September 2004)

•   Duchenne Muscular Dystrophy, nmMD (January 2005)

•   Spinal Muscular Atrophy (March 2008).

In August 2014, Translarna is granted conditional marketing authorization in the EU for the treatment of nmDMD in ambulatory patients aged 5 years and older. Ataluren also has European Medicines Agency (EMA) ODD for the following indications:

•   Duchene Muscular Dystrophy (May 2005)

•   Becker Muscular Dystrophy (July 2012).

FDA ODD Database Record For PTC Therapeutics’ Mucopolysaccharidosis I Indication 

Generic Name: Ataluren
Trade Name: Translarna
Date Designated: 12-10-2014
Orphan Designation: Mucopolysaccharidosis Type I
Orphan Designation Status: Designated
FDA Orphan Approval Status: Not FDA Approved for Orphan Indication
Sponsor: PTC Therapeutics, Inc. 100 Corporate Court South Plainfield, NJ 07080


Please Note: “Chemicals in Flasks by Joe Sullivan (Flickr) [CC-BY-2.0] | Wikimedia Commons.

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