• 12 June 2019
    X4 Pharmaceuticals and Invitae Announce Partnership to Provide No-Cost Genetic Testing to Patients Suspected of Primary Immunodeficiency Disease

     X4 Pharmaceuticals, Inc. (Nasdaq: XFOR), a clinical-stage biopharmaceutical company focused on the development of novel therapeutics for the treatment of rare diseases, and Invitae Corporation (NYSE: NVTA), a leader in medical genetics, today announced a partnership to provide genetic testing at no cost to patients through its collaborative PATH4WARD program. This initiative provides greater access to faster and earlier diagnosis for individuals who may carry a genetic mutation known to be associated with WHIM syndrome and Severe Congenital Neutropenia (SCN) – a group of rare inherited primary immunodeficiencies (PIs).

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    “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, Ph.D., President and Chief Executive Officer of X4 Pharmaceuticals. “Working with a strong and committed partner like Invitae allows us to facilitate quick and accurate diagnoses for patients, which can have a profound impact on their disease management and overall quality of life. Simultaneously, this partnership provides X4 with a clear path to gather critical data to identify the underlying genetic causes of PIs and deepen our understanding of these patients’ potential to respond to novel investigational therapies.”

    In addition to providing genetic testing to individuals who may present with a clinical picture known to be associated with WHIM or SCN, PATH4WARD will offer genetic counseling, as well as family variant testing (FVT) 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 PI 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, M.D., Chief Medical Officer of Invitae. “We are thrilled to partner with X4 Pharmaceuticals to increase access to genetic testing that can help diagnose more patients more quickly, thereby identifying more patients eligible for precision therapies and deepening the clinical community’s understanding of PI disorders such as WHIM and SCN.”

    About Severe Congenital Neutropenia

    Severe congenital neutropenia (SCN) comprises a group of rare hematological diseases characterized by impaired maturation of white blood cells. Affecting an estimated 3 to 8.5 cases per one million individuals, patients with SCN are prone to recurrent, often life-threatening infections beginning in their first months of life.1

    About WHIM Syndrome

    WHIM syndrome is a primary immunodeficiency disease caused by genetic mutations in the CXCR4 receptor gene resulting in susceptibility to certain types of infections. WHIM is an abbreviation for the characteristic clinical symptoms of the syndrome: Warts, Hypogammaglobulinemia, Infections, and Myelokathexis. Within the overall category of primary immunodeficiencies, there are between 15,000 and 100,000 patients in the U.S. who are classified with primary immunodeficiency disease of unknown origin – of which WHIM is one.2,3,4 WHIM is a rare disorder and the precise prevalence or incidence of patients that have the genetic mutation responsible for WHIM is unknown. Individuals with WHIM are more susceptible to potentially life-threatening bacterial infections.5 Additionally, WHIM 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.