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The AAV5 DetectCDx™ Kit received its Conformitée Européene (CE) mark in January 2022, and testing is being performed by a Medicover facility in Germany.

December 6, 2023

SALT LAKE CITY–A partnership between ARUP Laboratories and Medicover has made a new companion diagnostic, and thereby a new gene therapy, more accessible to patients in the European Union.

ARUP Laboratories, in close collaboration with BioMarin Pharmaceutical Inc., developed AAV5 DetectCDx™, a companion diagnostic that aids in the selection of adult patients with severe hemophilia A who are eligible for treatment with ROCTAVIAN™ (valoctocogene roxaparvovec-rvox), a new gene therapy developed by BioMarin. To facilitate access to the test in Europe, BioMarin and ARUP have partnered with Medicover, which provides diagnostic and healthcare services in Europe, to perform the testing at one of their facilities located in Germany for all countries in Europe.

“We have leveraged key ARUP strengths—our expertise in assay development and our robust quality management system that allow us to support in vitro diagnostic medical device commercialization—together with Medicover’s experience in clinical routine testing and presence in the European Union to provide this companion diagnostic to a broader patient population,” said Jay Patel, MD, MBA, vice president of Clinical Trials and PharmaDx at ARUP. “Our ultimate goal, in partnership with BioMarin, is to make AAV5 DetectCDx™ available in all markets where ROCTAVIAN will be authorized so that patients have access to this revolutionary treatment.”

Hemophilia A is a rare, X-linked genetic bleeding disorder caused by a deficiency in coagulation factor VIII (FVIII). People living with hemophilia A may experience painful and/or potentially life-threatening bleeding from even modest injuries because they lack sufficient clotting protein.

BioMarin’s new gene therapy uses adeno-associated virus serotype 5 (AAV5) as a vector to deliver a functional copy of the gene for FVIII in a one-time infusion, with the goal of reducing or eliminating the need for chronic prophylactic treatment. AAV5 DetectCDx™ will be used to determine the presence of preexisting anti-AAV5 antibodies, which may inhibit the efficacy of the treatment. Only individuals without anti-AAV5 antibodies will be eligible for the treatment.

The AAV5 DetectCDx™ Kit received its Conformitée Européene (CE) mark (European Conformity mark) in January 2022. After approval of ROCTAVIAN by the European Medicines Agency (EMA), Medicover began providing testing at one of its facilities in Germany for patients in countries where the treatment is approved.

“We are thrilled about this partnership with ARUP. This collaboration represents a milestone for our precision medicine activities. We have been impressed by the ARUP team and look forward to working with them further,” said Rainer Metzger, managing director of Integrated Clinical Services at Medicover.

AAV5 DetectCDx™ is the first ARUP-developed test to be performed in Europe.

The approval of the AAV5 DetectCDx™ Kit is the result of a close collaboration between ARUP, Medicover, and BioMarin. The test was used in multiple clinical studies that demonstrated the potential benefits of ROCTAVIAN in adult patients with hemophilia A.

“Our partnership with Medicover demonstrates how patient populations can better be served by a successful collaboration among healthcare providers and industry partners,” said Emily Coonrod, senior director of CDx at ARUP. 

“The AAV5 DetectCDx™ Kit demonstrates our commitment to supporting the delivery of exceptional patient care and highlights our team’s ability to execute on projects of this complexity,” Patel said. “Our PharmaDx group exists to support companion diagnostic testing for the development of cutting-edge therapies in diseases with significant unmet clinical need. We are honored to serve patients and our partners in this capacity, which has expanded even further through our partnership with Medicover.”

ROCTAVIAN and AAV5 DetectCDx™ received simultaneous FDA approval in the United States on June 29, 2023. ARUP also recently gained a CE mark for AAV5 DetectCDx™ single-site use under the new In Vitro Diagnostic Medical Devices Regulation (IVDR).

AAV5 DetectCDxTM Intended Use

The AAV5 Total Antibody Assay for ROCTAVIAN (valoctocogene roxaparvovec-rvox) Eligibility in Hemophilia A (“AAV5 TAb Assay”) or AAV5 DetectCDx is a qualitative in vitro diagnostic test by electrochemiluminescence intended for detection of antibodies in human plasma collected in 3.2% sodium citrate that bind to the adeno-associated virus serotype 5 (AAV5). The AAV5 TAb Assay is indicated as an aid in the selection of adult hemophilia A patients for whom ROCTAVIAN treatment is being considered. Patients that are anti-AAV5 antibody positive (result of Detected) are not eligible for treatment with ROCTAVIAN; patients that are anti-AAV5 antibody negative (result of Not Detected) are eligible for treatment with ROCTAVIAN. This assay is for professional use and is a single-site assay performed at ARUP Laboratories.

For more detailed information about ROCTAVIAN and its safety and efficacy, please visit https://www.roctavian.com.

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.

About Medicover

Medicover is a leading international healthcare and diagnostic services company founded in 1995. Medicover operates a large number of ambulatory clinics, hospitals, specialty care facilities, laboratories, and blood drawing points, and its largest markets are Poland, Germany, Romania, and India. In 2022, Medicover had revenue of EUR 1,510 million and more than 44,000 employees. For more information, visit www.medicover.com.

ARUP Media Contact:

Lisa Carricaburu, lisa.carricaburu@aruplab.com, 801-583-2787 ext. 3842