Experimental Treatment for WHIM Syndrome Gets Orphan Drug Designation

According to a story from BioSpace, the biotechnology company X4 Pharmaceuticals recently announced that the US Food and Drug Administration (FDA) has given Orphan Drug designation to the company’s investigational product X4P-001-RD. This designation was granted to this drug as a treatment for WHIM syndrome, a form of immunodeficiency. X4 specializes in the development of CXCR4 antagonist based treatments.

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

At this juncture, there are no approved therapies that address the underlying mechanisms of WHIM syndrome. Orphan Drug designation is a meaningful sign of progress for X4P-001-RD. This designation is primarily reserved for experimental drugs that are designed to treat diseases that are considered rare, which is defined as any illness that impacts 200,000 people or less in the US per year. In addition, the medication must either fulfill a currently unmet medical need or offer substantial advantages in either safety, convenience, or effectiveness in comparison to currently available therapies. Orphan Drug designation offers a number of substantial benefit to the recipient company, including tax breaks, the waiving of certain fees, and a market exclusivity period of seven years if the treatment gains approval.

It is estimated that there are anywhere from 15,000 to 100,000 people the US with some form of primary immunodeficiency whose origin remains unknown. Hopefully, X4P-001-RD will demonstrate its effectiveness in future trials.


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