Exondys 51 (eteplirsen)

This treatment uses a specific exon-skipping technique to jump over a portion of genetic machinery that produces a non-working, mutated form of dystrophin in children with DMD. It aims to restore the machinery’s ability to read genetic code, so it can create a less mutated form of dystrophin that works in children with DMD.

The production of partly functional dystrophin may delay muscle destruction and extend mobility in children with this devastating, rare disease. More specifically, Exondys 51 (eteplirsen) triggers the skipping of exon 51, which occurs in 13% of children with DMD.

In September 2016, the U.S. Food and Drug Administration approved Exondys 51 (eteplirsen) injection. Read more here

At the end of 2016, Sarepta Therapeutics announced that the European Medicines Agency (EMA) validated the previously submitted Marketing Authorization Application (MAA) for eteplirsen to treat Duchenne muscular dystrophy amenable to exon 51 skipping. Sarepta is seeking conditional approval of eteplirsen in the EU through the centralized procedure. Validation of the MAA confirms that the submission is accepted and starts the formal review process by the EMA’s Committee for Human Medicinal Products (CHMP). The standard review period is 210 days (plus additional time for the applicant to respond to questions from the agency). Info from Business Wire see complete article here.

This drug is not currently available in Canada, as Health Canada must approve its use in the Canadian market.

For more information on the exon-skipping technique in the treatment of DMD as well as a glimpse into the U.S. approval process for Exondys 51 (eteplirsen), please consult the following links to the manufacturer and other websites:

Translarna™ (ataluren)

This treatment is the first to target an underlying genetic cause of DMD: a nonsense mutation (nmDMD). It aims to slow the progression of DMD by restoring the function of a specific protein, dystrophin. In DMD, a nonsense mutation corrupts the genetic machinery that builds a working version of this protein, which is essential for proper neuromuscular function.

In clinical trials, ataluren has shown some benefit in slowing the loss of motor skills in some children with nmDMD. Some boys treated with ataluren could more easily undertake a range of physical activities, including walking, climbing and descending stairs and other motor functions.

In 2014, the European Medicines Agency granted Translarna™ (ataluren) conditional marketing authorization to treat nmDMD in children of 5 years of age or more and still able to walk. Translarna™ (ataluren) is also approved for use in South Korea and Israel.

At the end of 2016, Translarna™ (ataluren) received marketing authorization by the European Medicines Agency and is available in Europe and regions that reference that authorization.

On the 25h of October, the Office of Drug Evaluation I of the FDA provided a Complete Response Letter (CRL) for the application to market ataluren in the United States. This means that the FDA believes ataluren cannot be approved at this time. PTC Therapeutics Inc. is planning on filing a formal dispute resolution request next week. The dispute resolution process gives PTC an opportunity to appeal the letter issued by the Neurology division and have the decision on the application reviewed by the Office of New Products within the FDA. PTC Press Release

Translarna™ (ataluren) in Canada

Translarna™ (ataluren) has not received marketing authorization in Canada. This treatment must first and foremost be evaluated and approved for the Canadian market by Health Canada. To approve a drug, Health Canada must ensure that it meets certain safety, efficiency and quality requirements. Based on the outcome of ongoing regulatory interactions PTC is developing a plan to file a “New Drug Submission” for Translarna™ (ataluren) in 2017.

La Force Foundation hopes that Translarna™(ataluren) will be marketed in Canada as soon as possible so that all young patients can benefit.

Translarna™ (ataluren) calendar

For more information on the clinical benefits of Translarna™(ataluren) and the drug’s approval process in Canada, please consult the manufacturer’s press releases: