Quest Diagnostics granted FDA breakthrough designation for AAV test

Breakthrough Device Designation is an FDA process designed to expedite the development of certain therapies that provide more effective treatment or diagnosis of life-threatening or irreversibly debilitating diseases or conditions.

The enzyme-linked immunosorbent in vitro diagnostic assay is for the semi-quantitative detection of antibodies (IgG) to AAVrh74 capsid in human serum.

The adeno-associated viruses (AAV) test is intended to be used as an aid to identify patients eligible for treatment with Sarepta Therapeutics’ ELEVIDYS gene therapy for individuals with Duchenne muscular dystrophy.

In addition, Quest and Sarepta, a company focused on precision genetic medicine for rare diseases, have announced an expanded collaboration under which Quest will develop further diagnostics in connection with Sarepta's portfolio of investigational and on-market gene therapies.

The collaboration is expected to encompass screening assays for antibodies to Sarepta's AAV-vector based gene therapies for muscular dystrophies, including Duchenne muscular dystrophy (DMD) and limb girdle muscular dystrophies (LGMD).

The first companion diagnostic will be for Sarepta's first gene therapy, ELEVIDYS, intended to treat the underlying genetic cause of DMD, which received FDA approval in June 2023. Quest will also provide clinical lab testing for Sarepta.

Bill Finger, general manager, pharma services, at Quest Diagnostics, said: “Achieving breakthrough designation for our AAVrh74 ELISA, and collaboration with AAV-gene therapy pioneer Sarepta, positions Quest at the forefront of companion diagnostics innovation in the growing field of gene therapies. Our AAV testing expertise has the potential to empower many life science collaborators to develop, and ultimately bring to market, companion diagnostics for their gene therapies."

Louise Rodino-Klapac, chief scientific officer and head of R&D at Sarepta Therapeutics, said: “Sarepta is pleased to expand its collaboration with Quest beyond our investigational therapies and to partner to develop essential diagnostic tools for our approved gene therapies that help streamline/match gene therapy treatment to eligible patients. Quest's diagnostic R&D capabilities and laboratory capacity play a critical role in identifying the patients who may benefit from these treatments.”