Sarepta Therapeutics, a biopharmaceutical company, is working to unlock the potential of RNA-based technologies for the treatment of serious and life-threatening diseases like Duchenne muscular dystrophy (DMD). One of Sarepta’s primary focuses is to rapidly advance new treatments for DMD.
We spoke with Siobhan Fitzgerald, Senior Director, Patient Advocacy, to obtain an update on Sarepta’s therapeutic pipeline and research activities. She told us spontaneously: “This the best job of my lifetime, because I really feel we are working to make a difference for the people afflicted with DMD.”
Sarepta has helped the DMD community to achieve achieved important milestones in accessing medical treatment, such as the U.S. Food and Drug Administration (FDA)’s accelerated approval of eteplirsen (Exondys 51™). It marks the first time in U.S. history that patient advocacy on behalf of the DMD community has influenced an FDA decision.
There’s more to come! As a member of the DMD community, we invite you to read about Sarepta’s past achievements, Canadian research studies and their impressive development pipeline of new treatments for DMD.
“This the best job of my lifetime, because I really feel we are working to make a difference for the people afflicted with DMD.”
Siobhan Fitzgerald, Senior director,Patient Advocacy, Sarepta Therapeutics
Investing in promising treatments for DMD
Sarepta Therapeutics is committed to DMD research and treatment. They have developed RNA and exon-skipping therapies, such as eteplirsen and golodirsen (SRP-4053) (now in clinical trials). They are also investigating utrophin modulation, gene therapy and gene editing. Sarepta is a key player in our community.
What is exon skipping?
Mutations in the dystrophin gene are one cause of DMD. Most commonly, one or more exons (a portion of a gene) are missing, and the remaining exons don’t fit together correctly. (Think of a zipper that doesn’t work properly, because teeth are missing.)Because of this error, cells cannot make the dystrophin protein that muscles need to work properly. Without it, muscle cells become damaged and, over time, are replaced with scar tissue and fat.To fix the broken genetic machinery, scientists are developing drugs that skip over parts that contain missing or defective exons. In this way, the machinery can produce a less imperfect dystrophy protein, which may improve muscle function in children with exon mutations.
About exon skipping: https://www.sarepta.com/pipeline/exon-skipping-duchenne
About eteplirsen (Exondys 51™)
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. More specifically, this injectable drug triggers the skipping of exon 51, which occurs in 13% of children with DMD. It aims to restore the machinery’s ability to read genetic code, so it can produce a less mutated form of dystrophin that works in some children with DMD. The production of partly functional dystrophin may delay muscle destruction and extend mobility in some children with this devastating, rare disease. In September 2016, the U.S. FDA granted unprecedented, accelerated marketing approval to eteplirsen to treat eligible children with DMD in the USA. However, since clinical benefit has not been established, continued approval depends on whether the outcome of ongoing clinical trials can confirm its benefits in patients with DMD.
What about Canada?
At this moment, eteplirsen is not available in Canada. We hope that, in the near furture, Sarepta Therapeutics will file a request for marketing approval with Health Canada.
ESSENCE: Phase III study recruiting in Canada
Sarepta Therapeutics is recruiting DMD patients that have out-of-frame deletion mutations in dystrophin that may be treated by skipping exon 45 or exon 53 for its ESSENCE study. ESSENCE is a Phase III clinical trial that will compare the effectiveness and safety of two exon-skipping drugs, SRP-4045 and SRP-4053, to placebo therapy in eligible children with DMD. These children must have deletion mutations in dystrophin that may respond to exon-skipping treatment.
Two hospitals are participating in this trial in Canada:
Alberta Children’s Hospital
Principle investigator: Jean Mah, MD
London Health Sciences Centre
Principle investigator: Craig Campbell, MD
ESSENCE clinical trial brochure
More interesting links
Sarepta drug pipeline
Golodirsen (exon-skipping drug)
Eteplirsen: FDA approval