SALT LAKE CITY—The European Commission’s approval of a novel gene therapy for severe hemophilia A has paved the way for use of a companion diagnostic in the European Union (EU). In August, BioMarin Pharmaceutical Inc. announced that the European Commission had granted conditional marketing authorization (CMA) for ROCTAVIAN™ (valoctocogene roxaparvovec), the first approved gene therapy for adults with severe hemophilia A in Europe.
The AAV5 DetectCDx™ Kit was developed by ARUP Laboratories’ PharmaDx Group in partnership with BioMarin to help identify patients who are eligible for treatment with ROCTAVIAN™. The AAV5 DetectCDx™ Kit is already authorized for use in Europe, having received its Conformité Européenne (CE) mark in January 2022.
When clinicians begin using the AAV5 DetectCDx™ Kit, the companion diagnostic will become the first ARUP-developed test to be used in Europe. Testing with the AAV5 DetectCDx™ Kit is carried out independently of BioMarin.
“This is something that ARUP has never done before, and very few reference laboratories are able to execute on a companion diagnostic program of this complexity,” said Jay Patel, MD, executive director of PharmaDx and Clinical Trials at ARUP. “Through our partnership with BioMarin in the development and approval of this test, we are meeting the need for a diagnostic in support of a promising gene therapy for patients with severe hemophilia A.”
A one-time infusion, ROCTAVIAN™ works by delivering a functional gene that is designed to enable the body to produce factor VIII, a blood-clotting protein that is deficient in patients with hemophilia A, on its own. Adeno-associated virus 5 (AAV5) is the vector used to deliver the functional gene. The AAV5 DetectCDx™ Kit detects preexisting anti-AAV5 antibodies to identify patients who may be less likely to benefit from the treatment. ROCTAVIAN™ has not been approved in the United States. BioMarin is targeting the end of September 2022 for resubmission of a biologics license application (BLA) for ROCTAVIAN™.
The approval in Europe of BioMarin’s gene therapy and the CE mark for ARUP’s DetectCDx™ Kit are the result of a “Herculean effort” by scientific and project teams from both companies, said Jennifer Granger, PhD, group manager of the PharmaDx Companion Diagnostics team at ARUP.
“CDx development requires a great collaboration and alignment between drug and diagnostic test manufacturer companies, and we are happy to have partnered with ARUP on this important diagnostic program that helps to identify patients eligible to receive ROCTAVIAN™ therapy, a medical breakthrough with the potential to transform the treatment paradigm in severe hemophilia A,” said Denise Reilly, vice president and head of Global Medical Affairs Operations at BioMarin.
European regulators based their authorizations on data from clinical trials for which ARUP’s test was used to determine patient eligibility. Toni Pollock, group manager of the PharmaDx Clinical Investigations team at ARUP, has been involved in this collaboration from the early stages and has been looking forward to seeing the AAV5 DetectCDx Kit™ being used in a commercial setting. “Throughout this collaboration, the PharmaDx Group has never lost sight of what these drug and device approvals mean for the patient community.”
“ARUP’s PharmaDx group is thrilled that we are starting to see the hard-earned results of our collaboration with BioMarin to address an unmet need in the rare disease space,” Granger said. “We are proud of our role in innovation that stands to significantly benefit patients with severe hemophilia A.”
About ARUP Laboratories
Founded in 1984, ARUP Laboratories is a leading national reference laboratory and a nonprofit enterprise of the University of Utah and its Department of Pathology. ARUP offers more than 3,000 tests and test combinations, ranging from routine screening tests to esoteric molecular and genetic assays. ARUP serves clients across the United States, including many of the nation’s top university teaching hospitals and children’s hospitals, as well as multihospital groups, major commercial laboratories, group purchasing organizations, military and other government facilities, and major clinics. In addition, ARUP is a worldwide leader in innovative laboratory research and development, led by the efforts of the ARUP Institute for Clinical and Experimental Pathology®. ARUP is ISO 15189 CAP accredited.
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