Blunting Mutations in WHIM Syndrome and Other Rare Immunodeficiencies with Paula Ragan X4 Pharmaceuticals

Paula Ragan is the CEO and President of X4 Pharmaceuticals, which focuses on the rare disease WHIM Syndrome. Patients have a deficiency in their immune system, and as a result, this diminishes their ability to fight chronic infections, and they have a higher risk for severe cancers. Paula explains, "If one thinks about doing the right test, it's easy to diagnose, and the right test is doing genetic sequencing. There are commercially available panels, so it exists for the patient and physician communities. The current challenge is getting the physicians to recognize the test is needed. And then to also enable payment. X4 has done a great job in providing free testing through our PATH4WARD program." "Our lead candidate is called mavorixafor, and it's an oral once-daily capsule. And the amazing thing is its mechanism. What it does is binds to a receptor called CXCR4. And it basically shuts it down a little bit. It's kind of blunting the signaling that normally exists in the cell. And for these patients with WHIM syndrome, their disease is literally caused by too much signaling, by profound over signaling of CXCR4. So we can give them a once-daily capsule that blunts that effect and really then restores the more normalized function of the immune system so that they can combat infections and hopefully minimize their cancer risk." @X4Pharma #WHIMSyndrome #ChronicNeutropenia #CXCR4 #Waldenstrom #RareDisease X4pharma.com Download the transcript here