Following the EU’s approval of ROCTAVIAN, a gene therapy for severe hemophilia A, ARUP Laboratories, in partnership with BioMarin, has developed the AAV5 DetectCDx kit to help identify patients who are eligible for treatment with the drug.

Susan Shepard

September 28, 2022

2 Min Read
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Image courtesy of Kristoffer Tripplaar / Alamy Stock Photo

The European Commission's conditional marketing authorization (CMA) approval in August of a novel gene therapy for severe hemophilia A has paved the way for use of a companion diagnostic in the EU. BioMarin’s ROCTAVIAN (valoctocogene roxaparvovec) is the first approved gene therapy for adults with severe hemophilia A in Europe. 

To help identify patients who are eligible for treatment with ROCTAVIAN, ARUP Laboratories PharmaDx Group, in partnership with BioMarin, created the AAV5 DetectCDx Kit. It is already authorized for use in Europe, having received its 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, in prepared remarks. "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."

ROCTAVIAN is a one-time infusion that 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.

"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, in a company statement.

About the Author(s)

Susan Shepard

Susan Shepard is a freelance contributor to MD + DI.

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