Grounded in the DMD Community
Sarepta Therapeutics, Inc., a biopharmaceutical company, is working to unlock the potential of RNA-based and gene therapy technologies for the treatment of serious and life-threatening diseases like Duchenne muscular dystrophy (DMD). Sarepta’s primary focus 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 is the most important and best professional role of my lifetime because I feel that we will make a difference for people living with Duchenne, and those who love them. The Duchenne community inspires us every day.”
Sarepta has helped the DMD community achieve 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 the Duchenne patient advocacy community has worked collaboratively toward informing 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.
Siobhan Fitzgerald, Senior Director, Patient Advocacy, Sarepta Therapeutics, Inc. – “This is the most important and best professional role of my lifetime because I really feel that we will make a difference for people living with Duchenne, and those who love them. The Duchenne community inspires us every day.”
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, golodirsen (SRP-4053), and casimersen (SRP-4045) (golodirsen and casimersen are now in clinical trials in Canada). They are also investigating a second-generation exon-skipping technology called PPMO, as well as approaches in gene therapy, gene editing, and utrophin modulation. 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 dystrophin protein, which may improve muscle function in children with exon mutations. > Pipeline exon-skipping
About eteplirsen (EXONDYS 51®)
This treatment uses a specific exon-skipping technique to jump over a portion of genetic machinery that does not produce 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 shortened form of dystrophin that works in some children with DMD. The production of this shortened form of dystrophin may delay muscle degeneration and the progression of this devastating, rare disease in some children.
In September 2016, the U.S. FDA granted unprecedented, accelerated marketing approval to eteplirsen to treat children with DMD who are amenable to exon 51 skipping. 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 shortly, 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 children with DMD who are amenable to exon 45 skipping and 53 skipping, respectively.
Two hospitals are participating in this trial in Canada:
Alberta Children’s Hospital
Principle investigator: Jean Mah, MD > Contact: firstname.lastname@example.org
London Health Sciences Centre
Principal investigator: Craig Campbell, MD > Contact: email@example.com
ESSENCE clinical trial information