AbstractDuchenne muscular dystrophy is one of the ten most severe and common pediatric genetic diseases and affects an estimated 1 in every 5000 male births. While Duchenne muscular dystrophy is still a 100% fatal disease, the clinical community has demonstrated that immediate identification and early clinical interventions can add years, even decades to an individual’s life span.
In the last year, the therapeutic landscape for our Duchenne community has changed and advanced even further.
In August of 2014, the European Commission granted conditional marketing authorization for PTC Therapeutic’s Translarna™ - known as Ataluren in the United States – for use in the European Union (EU) for the treatment of nonsense mutation Duchenne muscular dystrophy in ambulatory patients aged five years and older. It is estimated that a nonsense mutation is the cause of Duchenne in approximately 13% of patients, or approximately 2,000 patients in the United States and 2,500 patients in the European Union. This fall, confirmatory trials for another promising therapeutic intervention began for the exon skipping therapy being led by Sarepta Therapeutics in the United States and an Accelerated Approval pathway for review commenced this Spring which could potentially benefit yet another 13% of the Duchenne population whose disease may be modified through a skipping of the targeted exon 51. Similarly, Biomarin began the regulatory process under a rolling new drug application for their exon skipping therapy, which would potentially benefit the same subset of the Duchenne population. By the end of 2015, it is anticipated that as many as 4 product reviews could be underway by the FDA in the U.S. for the treatment of Duchenne.