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

CAMBRIDGE, Mass.–(BUSINESS WIRE)–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).


“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.

About X4 Pharmaceuticals

X4 Pharmaceuticals is developing novel therapeutics designed to improve
immune cell trafficking to treat rare diseases, including primary
immunodeficiencies and certain cancers. X4’s oral small molecule drug
candidates antagonize the CXCR4 pathway, which plays a central role in
immune surveillance. X4’s most advanced product candidate, mavorixafor
(X4P-001), is expected to commence a global Phase 3 pivotal trial in
patients with WHIM syndrome, a rare genetic, primary immunodeficiency
disease, in the second quarter of 2019 and is currently also under
investigation in a Phase 2a clinical trial in clear cell renal cell
carcinoma. X4 was founded and is led by a team with extensive product
development and commercialization expertise, including several former
members of the Genzyme leadership team, and is located in Cambridge,
Massachusetts. For more information, please visit www.x4pharma.com.

About Invitae

Invitae Corporation (NYSE:
NVTA)
is a leading medical genetics company whose mission is to
bring comprehensive genetic information into mainstream medicine to
improve healthcare for billions of people. Invitae’s goal is to
aggregate the world’s genetic tests into a single service with higher
quality, faster turnaround time, and lower prices. For more information,
visit the company’s website at invitae.com.

Forward-Looking Statements

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
relationship with Invitae. These statements are subject to various risks
and uncertainties, actual results could differ materially from those
projected and X4 cautions investors not to place undue reliance on the
forward-looking statements in this press release. These risks and
uncertainties include, without limitation, the risk that trials and
studies may be delayed and may not have satisfactory outcomes, potential
adverse effects arising from the testing or use of mavorixafor or other
product candidates, the risk that costs required to develop mavorixafor
or other product candidates or to expand our operations will be higher
than anticipated and the risk that the PATH4WARD program and X4’s
relationship with Invitae will not be successful. Any forward-looking
statements in this press release are based on management’s current
expectations and beliefs and are subject to a number of risks,
uncertainties and important factors that may cause actual events or
results to differ materially from those expressed or implied by any
forward-looking statements contained in this press release, including,
without limitation, the risks and uncertainties described in the section
entitled “Risk Factors” in X4’s most recent Annual Report on Form 10-K
filed with the Securities and Exchange Commission (SEC), as updated by
X4’s Current Report on Form 8-K filed with the SEC on April 11, 2019,
and in other filings X4 makes with the SEC from time to time. X4
undertakes no obligation to update the information contained in this
press release to reflect subsequently occurring events or circumstances.

___________________________
1 Welte et al., Nature
reviews, 2017.
2 Boyle JM, Buckley, RH, Population
Prevalence of Diagnosed Primary Immunodeficiency Diseases in the United
States. J Clin Immunol 2007;27:497–502.
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
Jeffrey Modell Foundation. Immunol Res. 2011;51:61–70.
5
Primary Immunodeficiency Foundation: https://primaryimmune.org/disease/whim-syndrome.

Contacts

Investors:
Stephanie Carrington
Westwicke, an ICR
company
646-277-1282
[email protected]

Media:
Darcie Robinson
Westwicke, an ICR company
203-919-7905
[email protected]