X4 Pharmaceuticals and Invitae Announce Partnership to Provide No-Cost Genetic Testing to Patients Suspected of Primary Immunodeficiency Disease
Genetic testing to enable improved patient diagnoses and provide valuable disease-specific genetic insights for X4 clinical development of novel therapies
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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
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
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.
This press release contains forward-looking statements within the
meaning of the Private Securities Litigation Reform Act of 1995, as
amended. The words “may,” “will,” “could,” “would,” “should,” “expect,”
“plan,” “anticipate,” “intend,” “believe,” “estimate,” “predict,”
“project,” “potential,” “continue,” “target” and similar expressions are
intended to identify forward-looking statements, although not all
forward-looking statements contain these identifying words.
Forward-looking statements include statements regarding plans for, or
progress, scope, cost, duration or results or timing for the initiation,
completion or availability of results of development of mavorixafor
(X4P-001) or any of our other product candidates or programs, including
regarding the Phase 3 clinical trial of mavorixafor for the treatment of
patients with WHIM syndrome, the target indication(s) for development,
the size, design, population, location, conduct, objective, duration or
endpoints of any clinical trial, or the timing for initiation or
completion of or reporting of results from any clinical trial, the
potential benefits of mavorixafor, or any other product candidate or
program or the commercial opportunity in any target indication as well
as the expected offerings and benefits of the PATH4WARD program and X4’s
1 Welte et al., Nature reviews, 2017.
2 Boyle JM, Buckley,
3 Gathmann B, Grimbacher B, et al. The European internet-based patient and research database for primary immunodeficiencies: results 2006–2008. Clin Exp Immunol. 2009 Sep;157 Suppl 1:3-11.
4 Modell V, Gee B, et al. Global study of primary immunodeficiency diseases (PI) — diagnosis, treatment, and economic impact: an updated report from the
Westwicke, an ICR company
Westwicke, an ICR company