- New program expected to improve access to
genetic testing for activated PI3K delta syndrome (APDS), an
ultra-rare immunodeficiency disease
- Program has potential to advance clinical research
in APDS as a result of earlier diagnosis
LEIDEN, The Netherlands,
March 2, 2021 /PRNewswire/ --
Pharming Group N.V. ("Pharming" or "the Company") (Euronext
Amsterdam: PHARM/Nasdaq: PHAR), a global, commercial stage
biopharmaceutical company developing innovative protein replacement
therapies and precision medicines for the treatment of rare
diseases and unmet medical needs, in collaboration with Invitae
Corporation (NYSE: NVTA, "Invitae"), a leading medical genetics
company, announces the launch of a sponsored genetic testing
program, navigateAPDS, designed to assist clinicians in identifying
patients and their family members with activated PI3K delta
syndrome (APDS), which may lead to earlier diagnosis.
APDS is an ultra-rare primary immunodeficiency disease caused by
a genetic mutation affects approximately 1-2 people per million.
Patients are often misdiagnosed with other immunodeficiencies or
autoimmune disorders and often have a protracted course to obtain a
correct diagnosis. A definitive diagnosis can be made only by
a genetic test. Current treatment is generally limited to
supportive therapies such as antibiotics and the use of
immunoglobulin replacement therapy. There is no approved therapy
for the treatment of APDS, however, clinical trials are currently
ongoing, including Pharming's pivotal-stage development program for
leniolisib, a small molecule phosphoinositide 3-kinase delta
(PI3Kẟ) inhibitor, under development by Novartis and Pharming to
treat patients with APDS.
Pharming's support of the program will facilitate genetic
testing and counselling for eligible individuals in the United States and Canada at no charge. NavigateAPDS will use the
Invitae Primary Immunodeficiency Panel (PI), which analyzes up to
407 genes that are associated with inherited disorders of the
immune system. In addition to providing genetic testing to
individuals who may present with a clinical picture known to be
associated with APDS, navigateAPDS will offer pre-test and
post-test genetic counseling through a third party, and all blood
relatives of patients found to have a P/LP variant for APDS are
qualified to be tested through the program. By offering
access to the full PI panel, physicians and patients are more
likely to identify the underlying cause and potential diagnosis
without the need for additional expanded patient testing.
Sijmen de Vries, Chief Executive Officer commented:
"Our partnership with Invitae is an important step towards
simplifying access to testing, which may allow for an expedited and
accurate diagnosis for patients suffering from a primary
immunodeficiency such as APDS. Earlier diagnosis can favorably
impact disease management and could have a positive effect on
long-term outcomes and patients' quality of life. The program is
also a key component in advancing clinical research by identifying
the underlying causes of APDS, which will help us better understand
these patients' potential to respond to investigational precision
medicines."
Robert Nussbaum, M.D., Chief
Medical Officer of Invitae commented:
"Genetic information is a powerful tool that can improve
outcomes for patients and their families, both by supporting more
rapid diagnosis of ultra-rare diseases such as APDS and also by
enabling access to clinical trials. Partnerships like our work with
Pharming may enable the clinical trials necessary to develop
precision therapies in areas of significant unmet need."
To learn more about the navigateAPDS program, visit
www.invitae.com/navigateapds.
About APDS
APDS is an ultra-rare primary immunodeficiency first fully
described in 2013 that affects approximately 1-2 people per
million. APDS occurs when there is an abnormal change in
either one of two specific genes, the PIK3CD gene or the PIK3R1
gene. The genes follow an autosomal dominant mode of inheritance
which means one copy of the altered gene from either biological
parent is sufficient to cause the disorder. The genes are
involved in making parts of a protein that helps in the growth and
division of white blood cells, particularly the B-cell and T-cell
lymphocytes. APDS is present at birth and signs and symptoms
start early in childhood with affected individuals having increased
susceptibility to a myriad of inflammatory conditions including
recurrent severe respiratory tract infections, chronic benign
lymphoproliferation, hematopoietic malignancies, and/or autoimmune
diseases. Patients are often misdiagnosed with other
immunodeficiencies or autoimmune disorders and often have a
protracted course to obtain a correct diagnosis. A definitive
diagnosis can only be made by a genetic test and, once
appropriately identified, regular specialized health check-ups and
customized treatment plans are required. Current treatment is
generally limited to supportive therapies such as antibiotics and
the use of immunoglobulin replacement therapy. There is no approved
therapy for the treatment of APDS, however, clinical trials are
currently ongoing.
To learn more, visit www.allaboutapds.com.
About Pharming Group N.V.
Pharming Group N.V. is a global, commercial stage
biopharmaceutical company developing innovative protein replacement
therapies and precision medicines for the treatment of rare
diseases and unmet medical needs.
The flagship of our portfolio is our recombinant human C1
esterase inhibitor, or rhC1INH, franchise. C1INH is a naturally
occurring protein that downregulates the complement cascade in
order to control swelling in affected tissues.
Our lead product, RUCONEST® is the first and only plasma-free
rhC1INH protein replacement therapy. It is approved for the
treatment of acute hereditary angioedema, or HAE, attacks. We are
commercializing RUCONEST® in the United
States, the European Union and the United Kingdom through our own sales and
marketing organization, and the rest of the world through our
distribution network.
We are also developing rhC1INH for subsequent indications,
including pre-eclampsia, acute kidney injury and we also
investigating the clinical efficacy of rhC1INH in COVID-19.
In addition, we are studying our oral precision medicine,
leniolisib (a phosphoinositide 3-kinase delta, or PI3K delta,
inhibitor), for the treatment of activated PI3K delta syndrome, or
APDS, in a registration enabling Phase 2/3 study in the United States and Europe.
Furthermore, we are also leveraging our transgenic manufacturing
technology to develop next-generation protein replacement therapies
most notably for Pompe disease, which program is currently in the
preclinical stage.
For more information please visit the company's website:
www.pharming.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 www.invitae.com.
Forward-looking Statements
This press release contains forward-looking statements,
including with respect to timing and progress of Pharming's
preclinical studies and clinical trials of its product candidates,
Pharming's clinical and commercial prospects, Pharming's ability to
overcome the challenges posed by the COVID-19 pandemic to the
conduct of its business, and Pharming's expectations regarding its
projected working capital requirements and cash resources, which
statements are subject to a number of risks, uncertainties and
assumptions, including, but not limited to the scope, progress and
expansion of Pharming's clinical trials and ramifications for the
cost thereof; and clinical, scientific, regulatory and technical
developments. In light of these risks and uncertainties, and other
risks and uncertainties that are described in Pharming's 2019
Annual Report and its report for the nine months ended 30 September 2020, the events and circumstances
discussed in such forward-looking statements may not occur, and
Pharming's actual results could differ materially and adversely
from those anticipated or implied thereby. Any forward-looking
statements speak only as of the date of this press release and are
based on information available to Pharming as of the date of this
release.
Inside Information
This press release relates to the disclosure of information
that qualifies, or may have qualified, as inside information within
the meaning of Article 7(1) of the EU Market Abuse
Regulation.
For further public information, contact:
Pharming Group, Leiden, The
Netherlands
Sijmen de Vries, CEO: T: +31 71 524
7400
Susanne Embleton, Investor Relations
Manager: +31 71 524 7400/investor@pharming.com
Invitae, San Francisco,
USA
Corporate
Communications
Laura
D'Angelo
E: pr@invitae.com
FTI Consulting, London,
UK
Victoria Foster
Mitchell/Mary
Whittow/Alex Shaw,
T: +44 203 727 1000
LifeSpring Life Sciences Communication, Amsterdam, The Netherlands
Leon
Melens
T: +31 6 53 81 64 27
E: pharming@lifespring.nl