TrovaGene has been building a franchise of proprietarymarkers in hematological oncology, including mutations in the nucleophosmingene (NPM1), which are today widely used in the diagnosis of acute myeloidleukemia (AML), and the BRAF V600E mutation for diagnostic use in hairy cellleukemia.
"We believe that SF3B1 mutations have the potential tobecome key components of standard diagnostic panels, with clinical utility inthe management of patients suffering from CLL," noted Antonius Schuh,TrovaGene's CEO, in the news release about the license. "We plan to offerlaboratory-developed tests to detect SF3B1 mutations and to identifyopportunities for the development of in-vitrodiagnostic products incorporating our proprietary markers."
TrovaGene has what it maintains is "a dominant patentposition as relates to transrenal molecular testing," and this latest license,Schuh tells ddn, is an importantaddition to making the use of urine-based tests more common in dealing withcancer, as opposed to blood tests.
TrovaGene has U.S. and European patent applications andissued patents that cover testing for HPV and other infectious diseases,cancer, transplantation, prenatal and genetic testing. In addition, it ownsworldwide rights to NPM1, which is used as an informative biomarker for AML.
TrovaGene touts very highly tests that look for cell-freenucleic fragments that pass through the kidney and are detectable in the urine,because targeting transrenal markers will allow TrovaGene and its partners todevelop genetic tests that rely on easy-to-obtain urine samples rather thanmore invasive methods like bone marrow biopsies or even traditional bloodtesting.
"Obviously, there is a convenience factor, since it's easierto get urine samples than it is to even get blood samples," Schuh says. "Butalso, when you look at tumor-specific mutations, these may be rare events thatyou might see only once in a milliliter of blood. So the value proposition isthat you can obtain virtually limitless large volumes of urine effectively asoften as you want, in a way you never could with blood or plasma samples. We'reoffering not just value or convenience but also enabling people to addressimportant health problems and advance personalized medicine."
Schuh also notes that moving forward with its trans-renalmolecular diagnostics products is helped by the recent acquisition of ahigh-complexity CLIA lab in San Diego, which, he tells ddn, "means there is a commercial platform from which we can rollout many types of tests under CLIA guidelines."
TrovaGene also noted in its announcement of the licensingcoup that research results suggest that SF3B1 mutations represent importantincremental diagnostic markers beyond TP53 disruptions and NOTCH1 mutations inCLL patients, and may also provide a therapeutic target for SF3B1 inhibitors,which are currently in preclinical development.
TrovaGene notes that such finding were recently published inthe Dec. 22 issue of Blood, thejournal of the American Society of Hematology, in an article titled"Mutations of the SF3B1 splicing factor in chronic lymphocytic leukemia:association with progression and fludarabine-refractoriness" by Davide Rossiand colleagues.
Rossi and Gianluca Gaidano at the Amedeo Avogadro Universityin Novara, Italy, led the research team, in collaboration with their colleagueRoberto Foa at the Sapienza University in Rome, which discovered the SF3B1mutations.
"Since CLL is the most frequent type of leukemia in adults,the discovery of SF3B1 mutations in this disease will affect a large number ofpatients worldwide," Gaidano says. "In particular, SF3B1 mutations maycontribute to the early identification of patients destined to fail standardtreatment, who instead might benefit from more aggressive therapeuticstrategies. Future goals in SF3B1 research include the development of a robustmolecular assay for diagnosis and the exploitation of SF3B1 as a therapeutictarget for this leukemia."