Rare disease drug developer X4 Pharmaceuticals and medical genetics biotech Invitae are teaming up to provide third party genetic testing at no cost to individuals who may carry a genetic mutation known to be associated with severe chronic or congenital neutropenia (SCN), a group of rare inherited primary immunodeficiencies that includes WHIM syndrome.
SCN refers to a group of rare hematological diseases characterized by impaired maturation of white blood cells leaving those afflicted prone to recurring and often life-threatening infections throughout their life. It affects an estimated 3 to 8.5 out of 1 million individuals.
WHIM syndrome is a rare primary immunodeficiency disease caused by genetic mutations in the CXCR4 receptor gene resulting in susceptibility to certain types of infections. WHIM patients are more susceptible to potentially life-threatening bacterial infections and is associated with significant morbidity beginning in early childhood and continuing throughout life. Current therapy is limited to treatment of acute infections with antibiotics or prevention through the use of intravenous immunoglobulin or G-CSF. There is no approved therapy for the treatment of WHIM.
The testing will be done through Path4Ward, which uses the Invitae severe congenital neutropenia panel. In addition to providing genetic testing to individuals who may present with a clinical picture known to be associated with WHIM or SCN, the Path4Ward program will offer genetic counseling, as well as family variant testing for all blood relatives of patients found to have a pathogenic or likely pathogenic variant at no additional charge.
If the initial testing does not show mutations associated with WHIM or SCN, physicians will be able to access a broader primary immunodeficiency panel through the program for expanded patient testing.
“Time-to-diagnosis can mean all the difference to people living with rare disease, and too often these families find themselves in diagnostic odysseys that can last years,” said Robert Nussbaum, chief medical officer of Invitae.
X4 Pharma, which is providing financial support for the program, will receive de-identified patient data from the program. The biotech’s pipeline of oral small molecules antagonize the CXCR4 pathway, which plays a central role in immune surveillance. X4 plans to start a global phase 3 pivotal trial of its lead product candidate mavorixafor in patients with WHIM syndrome.
“Rare diseases such as WHIM and SCN, don’t often receive the attention and research that patients and their families deserve in order to discover and develop new therapeutic options,” said Paula Ragan, president and CEO of X4 Pharmaceuticals. “This partnership provides X4 with a clear path to gather critical data to identify the underlying genetic causes of primary immunodeficiencies and deepen our understanding of these patients’ potential to respond to novel investigational therapies.”
Photo: Paula Ragan, president and CEO of X4 Pharmaceuticals