ARUP Laboratories today announced that it has gained the Conformité Européenne (CE) mark for AAV5 DetectCDx™ single-site use under the European Union’s In Vitro Diagnostic Medical Devices Regulation (IVDR). AAV5 DetectCDx™ is a companion diagnostic developed in partnership with BioMarin Pharmaceutical Inc. to aid in the selection of adult patients eligible for BioMarin’s new gene therapy for severe hemophilia A, valoctocogene roxaparvovec-rvox (ROCTAVIAN™).

The new EU regulation requires that emerging medical devices meet rigorous standards for quality management and patient safety. Although AAV5 DetectCDx™ had already received a CE mark under the previous In Vitro Diagnostic Medical Devices Directive (IVDD) in August 2020, achieving the more stringent IVDR approval will enable ARUP to continue to provide patients access to testing in the EU after May 2026, when all medical devices will require IVDR approval. With EU approval, samples from those living in the EU and other countries that follow EU regulations can be tested at ARUP’s centralized lab in Salt Lake City.

“We are proud to be involved in this effort to support the needs of patients with severe hemophilia A,” said Jay Patel, MD, MBA, vice president of Clinical Trials and PharmaDx at ARUP. “We’ve demonstrated by our ability to execute on these stringent regulatory requirements that we’re committed to patient safety and access to testing.”

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 detect the presence of preexisting anti-AAV5 antibodies that can inhibit the efficacy of the treatment. Only individuals without anti-AAV5 antibodies will be eligible.

The approval of AAV5 DetectCDx™ is the result of a close collaboration between ARUP and BioMarin.

“We are gratified to see the results of this colossal effort from both teams and to fulfill an unmet need for patients with rare diseases such as hemophilia A,” said Jennifer Granger, PhD, group manager of the PharmaDx Companion Diagnostics team at ARUP, who has played a key role in the pursuit of IVDR approval.

European regulators based their authorization on data from clinical trials for which ARUP’s test was used to determine patient eligibility.

As a national reference laboratory closely aligned with an academic medical center, ARUP has a unique ability to support the development of companion diagnostics for emerging medical treatments. In addition to its College of American Pathologists (CAP) and Clinical Laboratory Improvement Amendments (CLIA) certifications, ARUP also has an International Organization for Standardization (ISO) 15189 certification, an internationally recognized quality standard, and meets the quality management requirements for medical devices, including title 21, Code of Federal Regulations (CFR), part 820.

“Very few clinical labs have the quality management system and competencies in place to execute on a new companion diagnostic at this regulatory level,” Patel said. “We are proud of our ability to deliver at the highest levels for patients and for our partners.”

AAV5 DetectCDx™ also received FDA approval on June 29, 2023, becoming the first FDA- approved companion diagnostic immunoassay for a gene therapy.


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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About PackGene

PackGene is a CRO & CDMO technology company that specializes in packaging recombinant adeno-associated virus (rAAV) vectors. Since its establishment in 2014, PackGene has been a leader in the AAV vector CRO service field, providing tens of thousands of custom batches of AAV samples to customers in over 20 countries. PackGene offers a one-stop CMC solution for the early development, pre-clinical development, clinical trials, and drug approval of rAAV vector drugs for cell and gene therapy (CGT) companies that is fast, cost-effective, high-quality, and scalable. Additionally, the company provides compliant services for the GMP-scale production of AAVs and plasmids for pharmaceutical companies, utilizing five technology platforms, including the π-Alpha 293 cell AAV high-yield platform and the π-Omega plasmid high-yield platform. PackGene's mission is to make gene therapy affordable and accelerate the launch of innovative gene drugs. The company aims to simplify the challenging aspects of gene therapy development and industrialization processes and provide stable, efficient, and economical rAAV Fast Services to accelerate gene and cell therapy development efforts from discovery phase to commercialization.

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