The European Medicines Agency’s Committee for Medicinal Products for Human Use (CHMP) has issued a positive opinion recommending marketing authorization for mavorixafor (Xolremdi) for the treatment of WHIM syndrome in patients aged 12 years and older.
WHIM syndrome is an ultra-rare primary immunodeficiency caused by gain-of-function mutations in the CXCR4 receptor gene. These mutations increase signaling through CXCL12, trapping leukocytes in the bone marrow and leaving patients with reduced circulating immune cells and recurrent infections. It is characterized by warts, hypogammaglobulinemia, infections, and myelokathexis .
Mavorixafor, developed by X4 Pharmaceuticals, is an oral CXCR4 antagonist designed to address this underlying mechanism. By blocking the CXCR4 receptor and preventing its interaction with CXCL12, the therapy promotes the mobilization of neutrophils, lymphocytes, and monocytes from the bone marrow into the bloodstream.
The CHMP recommendation is supported by a randomized, double-blind, placebo-controlled study of 31 patients with WHIM syndrome, which demonstrated that treatment with mavorixafor increased circulating neutrophil and lymphocyte counts. Some reductions in infections were observed, although the study did not demonstrate an effect on warts or establish a preventive impact on malignancies.
The most common adverse events reported were gastrointestinal symptoms (including nausea, diarrhea, vomiting, dyspepsia, and abdominal pain), as well as rash and headache.
Xolremdi will be available as 100 mg oral capsules and should be prescribed by physicians experienced in the management of immune deficiencies.
Because WHIM syndrome is extremely rare, the therapy was recommended for approval under exceptional circumstances, a pathway used when comprehensive clinical data are difficult to obtain due to limited patient populations. The European Commission will make the final decision on authorization.
To learn more about WHIM syndrome and other rare genetic conditions, visit https://checkrare.com/diseases/congenital-and-genetic-conditions/
