Case Study

Multiple Myeloma and NFKB2


Dr. Leon Bernal-Mizrachi, researcher at Emory University, specializes in studying hematological malignancies including multiple myeloma. Based on the premise that the cancer of each patient has unique characteristics, Dr. Bernal-Mizrachi's lab is focused on creating new tools that allow for earlier and more effective detection of cancer, in addition to determining ideal therapeutic interventions.

About Multiple Myeloma

Multiple myeloma represents approximately 18% of hematologic malignancies with a five-year survival rate of 48.5%1. A limited number of therapies are available for treatment of multiple myeloma, with proteasome inhibitors being the most common. Proteasome inhibitors are effective in only 27%2 of patients, and those patients often relapse as they develop a resistance to the drug over time.

The Project

In 2011, Dr. Bernal-Mizrachi partnered with Empire Genomics to develop a custom assay to evaluate the nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (NFKB2) in multiple myeloma patients. Within six months, Empire Genomics delivered a custom assay for the independent validation of his research hypothesis. Research showed that a high percentage of multiple myeloma patients present with a rearranged NFKB2 gene. Dr. Bernal-Mizrachi wanted to study if this rearranged gene could have an influence on the effectiveness of therapies used in multiple myeloma, specifically the effectiveness of proteasome inhibitors.

Empire Genomics was then awarded a Phase I SBIR Grant by the National Institute of Health/National Cancer Institute to further develop the companion diagnostic to evaluate NFKB2.

Currently, Empire Genomics is working with partners at Emory University and Millennium Pharmaceuticals, as well as other comprehensive cancer centers in the USA, to evaluate this targeted assay for a companion diagnostic Phase II clinical trial in patients with multiple myeloma (NCT02765854). The randomized trial studies two different combination therapies (ixazomib citrate/dexamethasone or ixazomib citrate/dexamethasone/lenalidomide) and their efficacy in treating multiple myeloma patients with the NFKB2 gene rearrangement. The trial, which is coordinated by the Multiple Myeloma Research Consortium (MMRC), is enrolling patients and has an estimated primary completion date of September 2018.

1 Cancer Facts & Figures, 2016. American Cancer Society; 2016
2 Clinical Use of Proteasome Inhibitors in the Treatment of Multiple Myeloma, Pharmaceuticals (Basel). 2015 Mar; 8(1): 1–20.