Sarepta taps Invitae to identify participants for DMD trials

Invitae Office
Provided with a blood sample, Invitae will deliver an analysis of the DMD pathogenic variant in 10 to 21 days. (Invitae)

Sarepta Therapeutics has partnered with genetic testing company Invitae to identify participants for its Duchenne muscular dystrophy (DMD) clinical trials. The initiative taps into the networks Invitae has built up to connect sponsors to patients and the clinicians responsible for their care.

DMD is a neuromuscular disease caused by multiple different mutations. Sarepta and its rivals are developing drugs designed to help genetic subsets of these patients, ramping up the need for information on why people suffer from the rare disease. Sarepta has tapped Invitae to help it zero in on patients who may benefit from its experimental DMD drugs.

Invitae has built its business around a suite of genetic tests, including one for the dystrophinopathy spectrum of muscle disorders linked to the DMD gene. Provided with a blood sample, Invitae will deliver an analysis of the DMD pathogenic variant in 10 to 21 days.


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Equipped with the DMD panel and other tests, Invitae works with biopharma companies to make tests available to doctors, thereby providing a source of patients genetically matched to clinical trial enrollment criteria. 

“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," Invitae CMO Robert Nussbaum, M.D., said in a statement. “Our network is designed to make it easier for patients and researchers to connect with each other.” 

The approach has landed Invitae partnerships with Alnylam, Biomarin, Blueprint Medicines and now Sarepta.

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