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Duchenne Muscular Dystrophy: Business Developments

March 9, 2013

Rare diseases and orphan drugs are a hot topic in the biotech world in the last year. Duchenne Muscular Dystrophy (DMD) has attracted a lot of interest from investors due to impressive positive results from Sarepta Therapeutics’ orphan drug Eteplirsen and their competitor, GlaxoSmithKline/Prosensa’s orphan drug Drisapersen. The Orphan Druganaut Blog published in mid-February 2013 a post on the business developments for Duchenne Muscular Dystrophy (DMD) Exon-Skipping orphan drugs. Here is a review of recent business developments since the Blog Post.


PTC Therapeutics, a New Jersey pharmaceutical company, is developing orphan drug Ataluren for DMD. The drug can be taken orally in a liquid. Ataluren, as described in a recent journal article in Expert Opinion on Orphan Drugs (see citation and link below), is a “stop codon read-through …. gene therapy that allows cells to …. read-through or ignore certain types of mutations called nonsense mutations …. Ataluren introduces a nucleotide sequence at the transfer RNA acceptor site, allowing the translational machinery to continue.” Up to 20% of DMD patients have a premature stop codon. Ataluren is in clinical trials for DMD, Becker Muscular Dystrophy (BMD), and Cystic Fibrosis (CF).

The FDA granted Ataluren fast track and orphan drug designations for DMD and CF, due to nonsense mutations. The European Commission gave Ataluren orphan designation for CF, DMD, and BMD.

PTC Therapeutics announces March 7, 2013, the successful completion of a $60 million private financing deal. This financing will enable “PTC to continue to pursue the regulatory approval and delivery of Ataluren to patients.” Proceeds from this financing will support  the continuation of the clinical development of Ataluren for DMD and CF. The company is initiating a Phase III confirmatory trial of Ataluren in 220 DMD patients, with the start of enrollment in the 1st half of 2013. The main goal of the trial is the “slowing disease progression as measured in the 6-minute walking distance test”.

The European Medicines Agency (EMA) accepted an application for conditional approval of Ataluren in DMD.


Prosensa, a Dutch pharmaceutical company, announces on February 27, 2013, that it receives the “Company Award” from EURORDIS (Rare Disease Europe). Yann Le Cam, EURORDIS CEO, says that the “EURORDIS Company Award recognizes Prosensa’s efforts in developing innovative medicinal products for rare diseases, partnering with major pharmaceutical companies and academic centers, promoting development and access of orphan drugs in Europe, and last – but not least – engaging into a dialogue with patient advocacy groups”.

Prosensa has 6 exon-skipping compounds in development for the treatment of DMD. The 6 compounds have orphan drug status in both the US and Europe. The company’s lead DMD compound, orphan drug Drisapersen, is in Phase III clinical trials in collaboration with GlaxoSmithKline. Recently, Drisapersen, has raised safety concerns. There were reports about the drug resulting in kidney toxicity.

Exon-skipping is a genetic intervention that alters dystrophin expression in the skeletal muscle. The DMD gene is the largest known human gene that consists of a coding sequence of 79 exons. Exon-skipping excludes particular exons from the dystrophin to bypass mutations.


The Orphan Druganaut Blog recently discusses in a business report the developments of the company.


Daiichi Sankyo announces on February 14, 2013, that it is establishing a new company, Orphan Disease Treatment Institute Company, with Innovation Network Corporation of Japan and Mitsubishi UFJ Capital Company. Daiichi Sankyo will collaborate with the newly formed company to develop a treatment for DMD that uses “the active ingredient ENA oligonucleotide, a modified nucleic acid made using proprietary technology owned by Daiichi Sankyo”.

The EMA recently publishes a new Guidance on the clinical investigation of medicinal products for the treatment of Duchenne and Becker Muscular Dystrophy.

Expert Opinion on Orphan Drugs is a new international, peer-reviewed journal that covers the topic of R&D for rare diseases and orphan drugs. A FREE article from the inaugural issue, the January 2013 (Vol. 1, No. 1) issue, is available online. The article discusses and reviews Phase II and Phase III clinical trials for DMD. The authors review evidence-based studies for the current status of treatments for DMD. The citation for this article :

Review of Phase II and Phase III clinical trials for Duchenne Muscular Dystrophy. Scully M, Pandya S, Moxley R. Expert Opinion on Orphan Drugs. Jan 2013; 1(1): 33-46.

Please Note: “Spinning Device To Mix Tissue Culture Medium” by National Cancer Institute [Public domain] | Wikimedia Commons.

Copyright © 2012-2013, Orphan Druganaut Blog. All rights reserved.

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