QIAGEN announced the U.S. Food and Drug Administration (FDA) approval of its therascreen PDGFRA RGQ PCR kit (therascreen PDGFRA kit).

This companion diagnostic is intended for use to aid clinicians in identifying patients with gastrointestinal stromal tumors (GIST) who may be eligible for treatment with AYVAKIT® (avapritinib), which is approved in the U.S. for the treatment of adults with unresectable or metastatic GIST harboring a platelet-derived growth factor receptor alpha (PDGFRA) exon 18 mutation, including PDGFRA D842V mutations[1]. The kit is the first platelet-derived growth factor receptor alpha (PDGFRA) assay to receive FDA approval as a companion diagnostic.

QIAGEN and Blueprint Medicines collaboratively developed the PDGFRA companion diagnostic assay. The real-time qualitative PCR in vitro diagnostic assay detects the D842V somatic mutation in the PDGFRAgene to determine which patients may be a candidate for treatment with AYVAKIT. The tyrosine kinase inhibitor (TKI) is designed to target the PDGFRA exon 18 D842V mutation and was approved by the FDA in 2020. GIST patients harboring the D842V mutation in PDGFRA exon 18 show primary resistance to previously approved TKIs.

The therascreen PDGFRA kit uses genomic DNA extracted from a patient’s formalin-fixed paraffin-embedded (FFPE) tumor tissue. FFPE tumor specimens are processed using the QIAamp DSP DNA FFPE Tissue Kit for sample preparation and the Rotor-Gene Q (RGQ) MDx instrument for DNA amplification and mutation detection.

“The therascreen PDGFRA kit is an FDA approved and validated test, delivering results in a fast turnaround time. This ensures that physicians receive results promptly, enabling them to make informed treatment decisions for their GIST patients in a timely and effective manner,” said Jonathan Arnold, Vice President, Head of Translational Science and Precision Diagnostics at QIAGEN. “This latest approval confirms QIAGEN’s leadership in companion diagnostics development. It adds to QIAGEN’s extensive list of now 12 FDA-approved companion diagnostics.”

GIST is a rare, genomically driven sarcoma of the gastrointestinal tract. Approximately six percent of patients with newly diagnosed GIST have PDGFRA exon 18 mutations, the most common of which is the D842V mutation[2]. Since the introduction of TKIs, including AYVAKIT, the treatment of GIST patients with locally advanced and metastatic disease has dramatically improved[3].

QIAGEN is a pioneer in precision medicine and the leader in collaborating with pharmaceutical and biotechnology companies to develop companion diagnostics. These can detect genetic abnormalities to provide insights that guide clinical decision-making about treatments. From polymerase chain reaction (PCR) and digital PCR (dPCR) to next-generation sequencing (NGS), QIAGEN offers an unmatched breadth of technologies, which means it can tailor products to partners’ needs.

QIAGEN has master collaboration agreements to develop and commercialize companion diagnostics with more than 30 global companies – a deep pipeline that will advance so-called precision medicine, which tailors a patient’s treatment to the genetic profile identified by companion diagnostics testing. Furthermore, QIAGEN has recently announced a series of collaborations with Neuron23 and Helix to develop companion diagnostics in disease areas outside oncology.