Press release2 maart
Pharming Group, in collaboration with Invitae Corporation, launches genetic testing program ‘navigateAPDS’ in US and Canada
New program expected to improve access to genetic testing for activated PI3K delta syndrome (APDS), an ultra-rare immunodeficiency disease
Leiden, The Netherlands, 2 March 2021: 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 (PI3K?) 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.
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.
- SIJMEN DE VRIES - CEO