Trovagene, Inc., a developer of cell-free molecular diagnostics, announced availability of the first urine test for cancer mutation monitoring through the company's CLIA laboratory.

The robustness of Trovagene's ultra-sensitive assay procedure has been demonstrated for detection of the BRAF V600E mutation from cell-free DNA in urine.  This mutation commonly occurs in melanoma, as well as several other prevalent cancer types.

Of the more than 70,000 cases of melanoma diagnosed each year in the United States, up to 70 per cent harbor a BRAF-type mutation and of these, 80 per cent may be positive specifically for BRAF V600E.1 There are several FDA-approved targeted therapies for the treatment of BRAF-positive melanoma, making mutational status monitoring an area of clinical interest among treating physicians.

Trovagene's cell-free BRAFSM test is a laboratory-developed test (LDT) designed to detect and monitor this mutation in metastatic cancer patients with biopsy-proven V600E BRAF mutation in their tumor.  It is the first commercial assay within Trovagene's cancer monitoring portfolio performed using a droplet digital PCR (ddPCR) platform.  Using urine as a non-invasive, systemic sample, the cell-free BRAF test could help physicians monitor changes in mutation status for patients requiring therapy for cancers that have this mutation. For patients with difficult-to-biopsy metastatic tumors, urine-based mutation testing may also provide a viable alternative to check mutation status as part of the initial treatment workup.

"We are developing a systemic, non-invasive cancer monitoring system," said Mark Erlander, chief scientific officer for Trovagene. "Traditionally, the mutation status of a tumor is determined using a tissue sample – a method that has limited practicality for patient monitoring due to costs, tumor heterogeneity and potential complications from the biopsy process. The ability to detect the mutation signal in cell-free DNA isolated from urine overcomes this limitation and meets a significant technical and clinical need."

The cell-free BRAF mutation assay has been tested across a range of solid tumors including melanoma, non-small cell lung, rectal, and colon cancers, indicating that urine-based mutation detection is applicable across many cancer types.  Additional clinical studies are ongoing to further understand the full range of clinical applications for this and other Trovagene assays.

"This first assay represents a significant milestone for Trovagene," said Antonius Schuh, chief executive officer of Trovagene. "Moving forward, our goal is to apply our technology for improved monitoring of tumor dynamics, leading to more effective management of cancer patients."

Trovagene has detected the BRAF V600E mutation in a variety of cancers, with high levels of sensitivity and strong concordance with tissue biopsy. Further expansion of the company's monitoring capabilities will include additional mutational markers with known clinical utility, as well as known genomic alterations that indicate resistance to therapy.

Headquartered in San Diego, California, Trovagene is leveraging its patented technology for the detection of cell-free DNA and RNA, short nucleic acid fragments, originating from normal and diseased cell death that can be isolated and detected from urine.