FDA Approves ARUP Laboratories' AAV5 DetectCDx™, a First-Ever Companion Diagnostic Immunoassay for a Gene Therapy

FDA issues simultaneous approval of ROCTAVIAN^™ (valoctocogene roxaparvovec-rvox), BioMarin's gene therapy for severe hemophilia A.

SALT LAKE CITY, June 29, 2023 /PRNewswire/ -- ARUP Laboratories today announced that the U.S. Food and Drug Administration (FDA) has approved AAV5 DetectCDx^™ as a companion diagnostic to aid in the selection of adult patients eligible for treatment with ROCTAVIAN^™ (valoctocogene roxaparvovec-rvox). ROCTAVIAN^™, a new gene therapy developed by BioMarin Pharmaceutical Inc., received contemporaneous FDA approval for the treatment of adults with severe hemophilia A (congenital factor VIII (FVIII) deficiency with FVIII activity <1 IU/dL) without antibodies to adeno-associated virus serotype 5 (AAV5) detected by an FDA-approved test.

AAV5 DetectCDx^™, which was developed by ARUP Laboratories in collaboration with BioMarin, is the first companion diagnostic immunoassay for a gene therapy product to receive FDA approval. ARUP will serve as the sole laboratory testing provider in the United States.

"By leveraging diagnostic testing, we can identify which patients are eligible to receive treatment," said Jay Patel, MD, MBA, executive director of PharmaDx and Clinical Trials at ARUP Laboratories. "We are proud of our role in the advancement of this revolutionary type of 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.

The 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 prophylaxis treatment. AAV5 DetectCDx^™ will be used to determine the presence of preexisting anti-AAV5 antibodies, which may inhibit the efficacy of the treatment. Only those without anti-AAV5 antibodies will be eligible for ROCTAVIAN under the current FDA approval.

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

"It is extremely satisfying to see the effort and dedication of both teams come to fruition after a successful and long-standing collaboration," said Emily Coonrod, the senior director of companion diagnostics in the PharmaDx department at ARUP Laboratories. "It has required the combined expertise, hard work, and perseverance of both teams to achieve this milestone."

AAV5 DetectCDx^™ is the third FDA-approved companion diagnostic test developed by ARUP Laboratories. Previously approved tests from ARUP Laboratories are intended as aids in the selection of patients with rare hematologic disorders for whom specific treatments are being considered. These were the first companion diagnostic tests to receive FDA approval under the Humanitarian Device Exemption (HDE) program.

AAV5 DetectCDx^™ is already authorized for use in Europe, having received its Conformité Européenne (CE) mark under the In Vitro Diagnostic Medical Devices Directive (IVDD) in August 2021.

Last year, the AAV5 DetectCDx^™ Kit, a kit that enables a partner facility in the European Union to perform the companion diagnostic test, also received authorization for use in Europe. The AAV5 DetectCDx^™ Kit is the first ARUP-developed test to be performed in Europe.

"AAV5 DetectCDx^™ demonstrates our commitment to providing exceptional patient care and highlights our capability to execute on projects of this complexity," Patel said. "Our PharmaDx group exists to support companion diagnostic needs for the development of cutting-edge treatments. We are honored to serve patients and our partners in this capacity."

AAV5 DetectCDx^™ 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.biomarin.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.

ARUP Media Contact:

Lisa Carricaburu, [email protected], 801-583-2787 ext. 3842

SOURCE ARUP Laboratories