Sarepta and Invitae Expand Partnership for DMD Research

This morning, it was announced that Invitae Corporation and Sarepta Therapeutics, Inc will be expanding its partnership to continue assisting clinicians in identifying patients with Duchenne muscular dystrophy (DMD).

The program is part of Invitae's network of partnerships that connect patients and clinicians to treatment and research.

DMD is a progressive degenerative muscle disease due to low levels of the dystrophin protein that are caused by mutations along the Dystrophin gene. Dystrophin acts as a shock absorber in muscle and without that protein’s support, muscles gradually die. Symptoms typically begin to appear in patients around the age of 4 or 5 years and by their teenage years, most are non-ambulatory; few live past their 20s.

Mutations along the dystrophin gene can result in low levels of the dystrophin protein and lead to DMD. The protein is responsible for acting like a shock absorber in muscle, and without it, muscles progressively degenerate.

"Our partnership with Invitae is important to advancing our clinical study objectives across our entire RNA-based platform," said Doug Ingram, Sarepta's President and CEO in a press release. "Sarepta's goal is to treat 100% of eligible individuals with DMD, and using the best tools to enable earlier genetic-based identification of patients is a necessary element to eventually achieving that aspiration."

In November 2017, Sarepta announced a collaboration with Duke University in which the partners would team up for the development of a therapy for DMD that involves CRISPR/Cas9 technology. More recently, in March, the company announced that it held a Type C meeting with the Division of Neurology Products of the US Food and Drug Administration (FDA) to solicit the Division’s guidance on the development pathway for golodirsen (SRP-4053).

"Genetic information is a powerful tool that can improve healthcare for patients and their families, both by helping make quicker diagnoses of rare diseases and also by providing access to treatment options and research opportunities that rely on patients and their providers having their genetic information," said Robert Nussbaum, MD, chief medical officer, Invitae. "Our network is designed to make it easier for patients and researchers to connect with each other. Partnerships like ours with Sarepta demonstrate how genetics can be used to advance research in the areas of medicine that need it most."

SRP-4053 is currently being evaluated in the ESSENCE study; a global, randomized double-blind, placebo-controlled study appraising safety and efficacy in patients amenable to skipping exons 45 or 53. The study could serve as a confirmatory study if the drug is granted accelerated approval.

Per Invitae’s Safe Harbor Statements: “Sarepta's goal is to treat 100% of eligible individuals with DMD; that genetic information is a powerful tool that can improve healthcare for patients and their families; the benefits of the company's network; and that the company's partnership with Sarepta demonstrates how genetics can be used to advance research.”

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