Possible Treatment for WHIM Syndrome Earns Orphan Drug Designation in the EU

According to a story from home.suddenlink.net, the biopharmaceutical company X4 Pharmaceuticals recently announced that the European Commission has granted Orphan Drug designation to the company’s lead investigational drug candidate, mavorixafor. This drug is in development for the treatment of WHIM syndrome, a rare genetic disorder that causes immunodeficiency. The decision was based on a recommendation from the Committee for Orphan Medicinal Products, part of the European Medicines Agency (EMA).

About WHIM Syndrome

WHIM syndrome, which stands for warts, hypogammaglobulinemia, immunodeficiency, and myelokathexis, is a rare, congenital syndrome that causes immunodeficiency that is characterized by chronic neutropenia, or low levels of neutrophils in the blood. This syndrome is caused by mutations that affect the CXCR4 gene. The activity of the GRK3 gene has been associated with the syndrome as well. Signs and symptoms of WHIM syndrome include the retention of neutrophils in the bone marrow, increased vulnerability to bacterial and viral infections (especially HPV), deficiencies in IgG antibodies and lymphocytes, and warts on the hands and feet. Treatment is mostly symptomatic and includes therapies to reduce bacterial infections and improve counts of neutrophils in the blood. There is currently no known cure. Research studies have suggested that CXCR4 antagonists could be an effective approach. To learn more about WHIM syndrome, click here.

About Orphan Drug Designation

Orphan Drug designation is an incentive program intended to promote the development of therapies for rare diseases, which is defined as any disease that affects less than 5 in every 10,000 people in the EU. To qualify, the potential treatment must display possible advantages in effectiveness or safety over currently available therapies or must fulfill a currently unmet medical need. This designation confers several benefits to the recipient, such as fee reductions, protocol assistance, and a ten year period of market exclusivity if the drug gains approval.

About Mavorixafor

Mavorixafor is X4’s foremost product candidate. It is classified as a small molecule antagonist of the CXCR4 chemokine receptor. Prior studies with the drug have demonstrated the proof of concept of this mechanism of action, with patients seeing reduced infections and warts as well as increased lymphocyte and neutrophil blood cell counts. A phase 3 trial for this drug is under way.


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