Clinical data from a Phase 2 study of the experimental drug X4P-001-RD for the treatment of WHIM syndrome has been announced at the European Hematology Association’s 23^rdCongress in Stockholm. The full article can be read here, at Business Wire.

WHIM syndrome is a type of primary immunodeficiency disorder, which means that it is associated with the immune system not functioning properly. The name, WHIM syndrome, comes from symptoms of the disease: warts, hypogammaglobulinemia, infections and myelokathexis. People with WHIM syndrome are more at risk of bacterial and viral infections, which can be life-threatening. The effects of the syndrome, however, vary between individuals, with some people having only mild symptoms and others developing life-threatening complications. The condition is often caused by alterations of the CXCR4 gene and can be inherited. People that are affected have very low levels of neutrophils, a type of white blood cell involved in the immune response.

The experimental drug X4P-001-RD is a proposed treatment for WHIM syndrome. It is a small molecule that functions by inhibiting CXCR4. In most people, the CXCR4 receptor is involved in releasing leukocytes and neutrophils into the blood and therefore plays a key role in a healthy immune system. However, in many people with WHIM syndrome alterations in the CXCR4 gene leads to these two cell types not being released into the blood, preventing the immune system from functioning. The drug X4P-001-RD helps the receptor to release the neutrophils and leukocytes to strengthen the immune system.

X4P-001-RD is currently being studied in the Phase 2/3 trial, and interim results from the Phase 2 section have recently been announced. In the study of eight patients with WHIM syndrome, it was found that all patients had a dose-dependent increase in their levels of neutrophils and lymphocytes. Furthermore, the drug was well tolerated and no serious adverse events were seen in up to 400mg daily doses for up to 400 days. One patient showed improvement in warts. Dr Dale, the study’s lead investigator, said,

“these results are very encouraging.”

The chief medical officer of X4 Pharmaceuticals, the company behind the study, has said that the company is looking forward to going ahead with the Phase 3 portion of the study.

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