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X4 Pharmaceuticals, Yale collaborate on rare diseases

Friday, August 4, 2017

X4 Pharmaceuticals, a clinical stage biotechnology company developing novel CXCR4 inhibitor drugs to improve immune cell trafficking to treat cancer and rare diseases, announced the initiation of a multi-year sponsored research program with Yale University to develop and study a genetic model of WHIM syndrome, a rare genetic immunodeficiency disease which currently has no approved treatments.

The multi-year research collaboration will investigate the fundamental mechanisms that result in chronic immune deficiency in a genetic preclinical model of WHIM syndrome. The research will be conducted with João Pedro Pereira, Ph.D., an Associate Professor of Immunobiology and a member of Yale’s Stem Cell Center and Yale Cancer Center’s Program in Cancer Immunology. Dr. Pereira’s laboratory is focused on the study of the mechanisms of hematopoiesis, the fundamental and complex process that generates many different cell types including all immune cells, and its role in conferring immunity.

“The incorrect positioning of immune cells in primary and secondary immune organs due to CXCR4 mutations has been well documented,” said Dr. Pereira. “This research will elucidate the fundamental mechanisms that lead to chronic impairment of the immune system, particularly of long-term immunity, as a result of aberrant immune cell positioning and trafficking. CXCR4 plays a fundamental role in immunity and we look forward to more deeply understanding its impact on the immune system.”

“It is gratifying to work with a leading immunobiologist like Dr. Pereira, who has developed cutting edge technologies to study immune cell trafficking and function on a single cell level,” said Sudha Parasuraman, M.D., Chief Medical Officer of X4. “X4’s research program with Yale offers the exciting possibility to gain mechanistic insights into WHIM syndrome and the role that CXCR4 plays broadly in immunity, so that we can further demonstrate the potential of our drug candidate, X4P-001-RD, to address the unmet need of patients with WHIM syndrome.”

WHIM syndrome is a primary genetic immunodeficiency disease caused by mutations in the CXCR4 receptor gene resulting susceptibility to certain infections. WHIM is an abbreviation for the characteristic symptoms of the syndrome: Warts, Hypogammaglobulinemia, Infections, and Myelokathexis. Within the overall category of primary immunodeficiencies, there are between 15,000 and 100,000 patients in the U.S. that are classified with disease of unknown origin—of which WHIM is one of these diseases of unknown origin. The precise prevalence of patients that have the genetic mutation responsible for WHIM syndrome is unknown, but we estimate that several thousand patients worldwide suffer from WHIM syndrome. Because patients are highly susceptible to infections, WHIM syndrome is associated with significant morbidity beginning in early childhood and continuing throughout life. Current therapy is limited to treatment of acute infections with antibiotics or prevention through the use of intravenous immunoglobulin. There is no approved therapy for the treatment of WHIM syndrome.

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