X4 Pharmaceuticals Reports Positive Phase 2 Results for WHIM Syndrome Drug

According to an article published by Biospace, X4 Pharmaceuticals, based in Cambridge, Massachusetts, has recently announced successful phase two results in clinical trials for their experimental drug X4P-001.

The drug is intended for patients with WHIM Syndrome, for which there are currently no approved therapies.

What is WHIM Syndrome?

WHIM syndrome is an extremely rare primary immunodeficiency disorder, a group of disorders characterized by a malfunctioning immune system. Current medical estimates suggest that only about one in five million live births are affected – only some 60 cases have been recorded thus far.

WHIM is an acronym that details some of the defining symptoms experienced by those with the condition – warts, hypogammaglobulinemia (a shortage of gamma globulins, including antibodies), infections, and myelokathexis (a shortage of available white blood cells around the body).

As a result of their weakened immune systems, people with WHIM are more prone to what can be life-threatening bacterial infections. Viral infections also affect individuals with WHIM syndrome at a higher rate. Those afflicted have a particular sensitivity to human papillomavirus (HPV), the most common STI in humans. HPV can lead to the development of warts on the affected individual, especially so if they have WHIM syndrome.

Patients with the condition can experience anywhere between only mild affects to live-threatening complications. Repeated infection and reinfection can severely weaken individuals with WHIM syndrome, and can seriously damage various parts of the body.

X4P-001 to Proceed to Phase 3 Trials

At the conclusion of its phase two trials, it was determined that patients with WHIM that had been treated with X4P-001 experienced an observable improvement in their neutrophil and lymphocyte (types of white blood cells) counts. This is believed to be responsible for the reduction of HPV-related warts experienced by at least one trial patient.

X4 Pharmaceuticals hopes to proceed to a phase 3 trial for the drug in early 2019.

Just a few months ago, it was reported that X4P-001 had received Orphan Drug designation from the Food and Drug Administration. This grants X4 Pharmaceuticals a number of lucrative benefits designed to incentivize further research into promising medications that would only benefit a select few patients (fewer than 200,00 Americans), including a seven-year domestic monopoly on similar drugs designed to treat WHIM.

The National Institute of Allergy and Infectious Diseases (NIAID) also recently sponsored a study which suggested that the already-FDA-approved drug plerixafor might also benefit people with WHIM syndrome. The drug, normally for patients undergoing bone marrow transplants, acts by blocking the activity of CXCR4, the protein in which WHIM syndrome originates.


WHIM syndrome is an exceptionally rare condition – but how might the study of such rare conditions help shape our understanding of treatment in other, more common ones? What do you make of X4’s promising phase 2 trial? Share your thoughts with Patient Worthy!

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