Partners aim to develop clinical lab tests to assess tumor-related gene mutations and expression without biopsies.

Exosome Diagnostics and the Ludwig Maximilian University (LMU) have been awarded a €1 million grant by the German Federal Ministry for Education and Research (BMBF) to fund development of blood-based diagnostic tests based on the stable RNA content of plasma-derived exosomes. The aim is to develop exosome-based diagnostics for detecting tumor-specific mutations in blood samples from cancer patients, for use in monitoring disease recurrence, aiding therapy selection, and potentially enabling early cancer detection.

Through the project the firms aim to generate an approach to identify tumor-specific somatic mutations such as those found in the Raf and Ras gene families, by coupling exosome-based technology with next-generation sequencing and qPCR instrument platforms. If successfully developed, Exosome Diagnsotics aims to offer the clinical diagnostic tests as a commercial laboratory service out of its facilities in the U.S. and Germany.

“The prospects of detecting specific cancer mutations by a fast and simple blood or urine sampling would be a major advancement and facilitate the whole procedure of personalized medicine starting from the decision to treat, which therapies to use, to the immediate monitoring of treatment effect,” remarks Carola Berking, M.D., professor of dermatology at the LMU.

The partners claim microvesicles, including exosomes, contain large quantities of tumor-derived mRNA that can be accessed in biofluids. Rather than having to biopsy tumor tissue, the microvesicle/exosome population thus represents a stable source of tumor RNA in blood, urine, and cerebrospinal fluid that could provide the basis for highly sensitive diagnostics for key cancer-related gene mutations and gene expression levels.

To exploit this potential, Exosome has been developing an ultra-deep, multiplexed sequencing method for use with mRNA from blood and urine exosome preparations. The firm claims the technology can detect rare gene mutations upregulated into exosomes by cancer cells, even against a background of wild-type genes. The next generation sequencing technology also allows for hundreds of mutations to be interrogated simultaneously.

“Exosome technology allows us to repeatedly interrogate tumor, inflammatory, and immune response gene signatures in a minimally invasive manner,” claims James McCullough, Exosome Diagnostics CEO. “We are essentially looking for genetic needles in a haystack of biological material. By isolating exosomes we avoid a host of complicating factors, such as circulating enzymes, platelets, and other interfering factors, that are a significant detriment to achieving diagnostic sensitivity and reproducibility.”

In October 2011 Exosome teamed up with The Prostate Cancer Foundation (PCF) on a multiyear collaboration to accelerate clinical validation of Exosome’s biofluid molecular diagnostics technology in prostate cancer. The partnership will evaluate the use of RNA biofluid diagnostics for early diagnosis, progression monitoring, and disease risk stratification in prostate cancer.

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