Rare Diseases

X4 joins hands with Yale on rare disease program

Yale University campus - red building and a quadrangle with trees
The biotech will collaborate with the lab of Yale immunobiologist João Pedro Pereira, Ph.D.

Yale University has teamed up with cancer biotech X4 Pharmaceuticals to work on its therapy for WHIM syndrome, a rare genetic disorder that plays havoc with the immune system but has no approved treatment.

The Cambridge, Massachusetts, biotech—which specializes in drugs targeting the CXCR4 receptor—says it will help Yale investigate the molecular mechanisms behind WHIM syndrome, specifically the role that CXCR4 mutations may play in the disease. CXCR4 is the receptor for the chemokine CXCL12, and research has suggested that the interplay of the receptor and its ligand can downplay immune responses.

In patients with WHIM syndrome, reduced immunity makes them vulnerable to a range of symptoms, notably—as the acronym indicates—warts, hypogammaglobulinemia (low antibody levels), infections, and myelokathexis (a severe deficiency in white blood cells).

Some patients are treated off-label with GCSF drugs such as filgrastim to improve white blood cell counts, while antibiotics and infusions of immune globulin are used to…