Latest news with #geneticTesting
Associated Press
a day ago
- Business
- Associated Press
RetinalGenix Technologies Contracts with LabCorp to Support DNA/GPS Platform for Advanced Genetic and Retinal Health Screening
APOLLO BEACH, Fla., June 27, 2025 (GLOBE NEWSWIRE) -- RetinalGenix Technologies Inc. OTCQB:RTGN ('RetinalGenix' or the 'Company'), a pioneering developmental-stage company focused on ophthalmic screening, monitoring, pharmacogenetic mapping, and repurposed drug development for early detection and treatment of eye and systemic diseases, has entered into an agreement with LabCorp, one of the nation's largest laboratory services organizations, to support the rollout of the RetinalGenix DNA/RNA/GPS Pharmaco-Genetic Mapping™ platform. This innovative program enables patients to undergo genetic testing and high-resolution retinal imaging anonymously and provide insights into both ocular and systemic diseases. Through this collaboration, patients may visit any USA-based LabCorp location to have blood, tears, nasal secretions, and saliva collected and analyzed using proprietary algorithms developed by the RetinalGenix and DNA/RNA GPS analysis platform. These tests may correlate genetic and retinal biomarkers seeking to establish a new standard for early detection of a wide range of health conditions. Based on tests recommended by RetinalGenix, patients may elect to have their data analyzed using specific algorithms developed by RetinalGenix. This process is paired with DNA/RNA/GPS to correlate with current and future biomarkers found in the eye and the blood. Dr. Larry Perich, DO, Advisor for the DNA/RNA/GPS program, noted, 'As the database of disease-associated biomarkers expands, we expect the value of these platforms for diagnosing both ocular and systemic diseases continues to grow, promising improved outcomes and more accessible care.' Patients maintain full control of their health records, which remain anonymous and confidential. Appointments and test orders are managed via the RetinalGenix online platform, with results securely released to patients upon validation of payment at their chosen LabCorp center. Dr. Taimour Langaee, PhD, oversees the Company's DNA/GPS genotyping/sequencing data processing, genetic and pharmacogenomics data analyses, and clinical genetic association studies between eye diseases and genetic variations. Dr. Langaee said, 'I am excited that this creates great opportunities to further expand our knowledge about the important role of genetics and precision medicine in eye diseases, affecting millions of people and the potential to discover novel genetic variants and treatments.' High-resolution retinal imaging will be introduced by RetinalGenix as a value-added additional service at various locations in the near future. The integration of high-resolution imaging is expected to further boost diagnostic accuracy, allowing even general practitioners and standard eye clinics to assist in patient mass screening. These innovations are designed to make screening more accessible, cost-effective, and capable of detecting disease at earlier, more treatable stages. 'The cost of healthcare is enormous, and patient access is critical. This cost-effective methodology aims to reduce reliance on expensive diagnostic procedures such as MRIs, CT scans, PET Scans, echocardiograms to name a few, helping to alleviate the financial burden on both patients and the healthcare system. Equally important is avoiding the use of high-priced specialists to perform basic eye care services. The company is actively collaborating with regulators to establish CPT codes, which should lower healthcare costs and improve access to necessary evaluations. By doing so, the already overburdened patient assessment process can be streamlined,' stated Jerry Katzman, MD, RetinalGenix Technologies CEO. About RetinalGenix RetinalGenix is an ophthalmic research and development company seeking to revolutionize early disease detection and improve patient outcomes across multiple disease areas by integrating genetic screening, advanced imaging, and therapeutic development. Its proprietary High-Resolution Retinal Imaging and RetinalGenix DNA/RNA/GPS Pharmaco-Genetic Mapping™ technologies are designed to help prevent blindness by detecting initial physiological changes that could indicate future ocular and systemic diseases affecting neurodegenerative, cardiovascular, vascular, and metabolic systems, as well as diabetic conditions, Alzheimer's disease and Parkinson's disease. RetinalGenix is also developing therapeutic drugs for dry age-related macular degeneration (dry AMD) and Alzheimer's disease/dementia. Safe Harbor Statement This press release contains certain forward-looking statements within the meaning of the safe harbor provisions of the Private Securities Litigation Reform Act of 1995. These statements are identified by the use of the words 'could,' 'believe,' 'anticipate,' 'intend,' 'estimate,' 'expect,' 'may,' 'continue,' 'predict,' 'potential,' 'project' and similar expressions that are intended to identify forward-looking statements and include statements regarding reducing reliance on expensive diagnostic procedures with the Company's methodology, the planned rollout of the RetinalGenix DNA/RNA/GPS Pharmaco-Genetic Mapping™ platform, the program providing insights into both ocular and systemic diseases, correlating genetic and retinal biomarkers to seek to establish a new standard for the early detection of a wide range of health conditions, the value of platforms for diagnosing both ocular and systemic diseases continuing to grow, promising improved outcomes and more accessible care, the opportunities to further expand our knowledge about the important role of genetics and precision medicine in eye diseases and the potential to discover novel genetic variants and treatments, introducing high-resolution retinal imaging as an additional service in the near future, the integration of high-resolution imaging further boosting diagnostic accuracy, allowing even general practitioners and standard eye clinics to assist in patient mass screening, the innovations making screening more accessible, cost-effective, and capable of detecting disease at earlier, more treatable stages, establishing CPT codes to further lower healthcare costs and improve access to necessary evaluations and streamlining the patient assessment process. These forward-looking statements are based on management's expectations and assumptions as of the date of this press release and are subject to a number of risks and uncertainties, many of which are difficult to predict, that could cause actual results to differ materially from current expectations and assumptions from those set forth or implied by any forward-looking statements. Important factors that could cause actual results to differ materially from current expectations include, among others, the Company's ability to successfully complete research and further development and commercialization of Company products, the timing, cost and uncertainty of obtaining regulatory approvals for the Company's products, the Company's ability to protect its intellectual property, and the risk factors described in the Company's Annual Report on Form 10-K for the year ended December 31, 2024 and the Company's subsequent filings with the SEC, including subsequent periodic reports on Forms 10-Q and 8-K. The information in this release is provided only as of the date of this release, and we undertake no obligation to update any forward-looking statements contained in this release on account of new information, future events, or otherwise, except as required by law. Media Contact: For further information, please contact: RetinalGenix Technologies Inc. Media and Investor Relations [email protected] (800) 331-5446
Yahoo
4 days ago
- Business
- Yahoo
Natera Gains Medicare Coverage for WGS Signatera, Leerink Reaffirms Price Target
Natera Inc. (NASDAQ:NTRA) is one of billionaire Stan Druckenmiller's top stock picks with huge upside potential. Leerink Partners analysts reiterated their Outperform rating on Natera Inc. (NASDAQ:NTRA) on June 4. Given recent adjustments to Medicare's reimbursement of Natera's WGS Signatera assay, the analysts maintained their price target for the company at $220. Natera Inc. (NASDAQ:NTRA) recently revealed that MolDX had approved Medicare coverage for its WGS Signatera assay. The update followed the findings of a bridging study that showed similar performance between the WGS Signatera and the previously released WES Signatera. The WGS Signatera assay has been expanded to encompass a number of ailments, including colorectal cancer, breast cancer, bladder cancer, and pan-cancer immunotherapy monitoring. Analysts expect that WES Signatera will continue to dominate Signatera volumes in the near term, despite the recent coverage. That said, now that it is eligible for reimbursement, the WGS Signatera assay may see a modest rise in usage. One of the top providers of cell-free DNA and genetic testing, Natera Inc. (NASDAQ:NTRA) focuses primarily on women's health, cancer, and organ health. While we acknowledge the potential of NTRA as an investment, we believe certain AI stocks offer greater upside potential and carry less downside risk. If you're looking for an extremely undervalued AI stock that also stands to benefit significantly from Trump-era tariffs and the onshoring trend, see our free report on the best short-term AI stock. Read More: and Disclosure: None.
Medscape
5 days ago
- Health
- Medscape
Docs Urged to Use Genome Tests to Diagnose Kids Early
'Knowing what's going on at the genetic level can make a huge difference,' Stoler said. 'It's about clarity, not just for doctors, but for families navigating an uncertain journey.' Access and Adoption Challenges Remain Pediatricians are generally willing to refer or order genetic testing but face several barriers, said Julian Martinez-Agosto, MD, PhD, an associate professor of genetics at UCLA Health. 'Perceptions about lack of clinical utility or impact on patient outcomes have been a primary barrier,' said Martinez-Agosto, who was not involved with the AAP report. 'Other barriers include lack of time due to high clinic volumes, unfamiliarity with the testing process, and insecurity about discussing results — especially when they're uncertain or relate to reproductive planning.' Martinez-Agosto said health systems can improve access by offering primary care clinicians accessible education and tools to support counseling and interpretation. Still, interpreting genetic results can be complex. Some findings may present unclear significance. Others may uncover unrelated but medically relevant information, such as a predisposition to adult-onset diseases. 'It would be optimal for the pediatrician to have the involvement of a trained genetic professional,' Stoler said. Indeed, the report states that genetic counseling should be offered both before and after testing, especially when test results carry uncertain significance or broader family implications. Additional barriers include cost and inconsistent insurance coverage. However, Pastinen noted recent signs of improvement. 'In the last 3 years, there's been a substantial increase in Medicaid coverage for early genomic sequencing in unsolved pediatric disease,' Pastinen said He also said the new AAP guidance could help push insurance companies still hesitant to cover these tests. 'Every year we see better coverage by insurers,' he said. 'I hope this is another piece in the reimbursement puzzle.' Demarest had consulted for, received grant funding from, and served on advisory boards of BioMarin, Neurogene, and Marinus, among others. The Precision Medicine Institute at Children's Hospital Colorado has ongoing partnerships with Illumina, although Demarest reported not receiving any direct compensation from this partnership. Stoler, Pastinen, and Martinez-Agosto reported no relevant financial conflicts of interest. Lara Salahi is a health journalist based in Boston. Lead image: Moment/Getty Images
Yahoo
5 days ago
- Health
- Yahoo
Pharming Group to host webcast on findings of a new study published in Cell advancing functional classification of variants of uncertain significance (VUS) to improve APDS diagnosis
For media and investors only Researchers identified variants which may cause activated phosphoinositide 3-kinase delta (PI3Kδ) syndrome (APDS) Results enable clinical genetic testing labs to appropriately reclassify VUSs, accelerating the path to a definitive APDS diagnosis for many patients Findings reveal APDS may be more prevalent than previously estimated Webcast to take place on Monday, June 30, 2025, at 16:30 CEST / 10:30 EDT Leiden, the Netherlands, June 24, 2025: Pharming Group N.V. ('Pharming' or 'the Company') (EURONEXT Amsterdam: PHARM/Nasdaq: PHAR) announces it will host a webcast for investors and analysts featuring Joshua Milner, MD, an internationally renowned immunologist, to discuss the findings of a recent study published in the peer-reviewed journal Cell. The study titled 'Scalable generation and functional classification of genetic variants in inborn errors of immunity for improved clinical diagnosis and management' was led by Zachary Walsh, MD/PhD candidate, Dr. Milner and Benjamin Izar, MD, PhD of Columbia University. The publication details significant advances in diagnosing inborn errors of immunity, also known as primary immune disorders. The researchers' approach helps resolve a major limit to interpretation of genetic testing that often yields variants of uncertain significance (VUS) when evaluating such disorders, including activated phosphoinositide 3-kinase delta (PI3Kδ) syndrome (APDS). There are currently over 1,300 known U.S. patients with a VUS in the PIK3CD and PIK3R1 genes implicated in APDS. The team at Columbia introduced more than 2,000 PIK3CD/PIK3R1 variants, representing a portion of all potential variants, into human T-cell lines and assessed PI3Kδ pathway activity. These studies successfully confirmed known disease-causing APDS variants and, importantly, also identified over 100 new variants with evidence for PI3Kδ pathway hyperactivity. By analyzing very large datasets of patients who agreed to have their genetic testing linked to their medical records, the research team at Columbia concludes that the real prevalence of APDS may be higher than previously estimated. During the call, Dr. Milner will provide insights into the study's methodology, key findings, implications, and next steps. Anurag Relan, Pharming Chief Medical Officer, will lead a Q&A session with Dr. Milner and discuss next steps to collaborate with genetic testing laboratories on their VUS reclassification efforts, extend the study to assess additional variants, and further investigate the clinical phenotype of APDS in the newly identified variants. Anurag Relan, MD, MPH, Chief Medical Officer of Pharming, commented: 'This important study, recently published in Cell, is a key step towards providing answers to patients with a VUS in the PIK3CD or PIK3R1 genes. The study highlights the importance of increased genetic screening and awareness to ensure timely diagnosis of APDS. We expect these data to enable clinical genetic testing laboratories to reclassify a portion of the VUSs, accelerating the path to a definitive APDS diagnosis for many patients. We look forward to additional near-term studies to facilitate the reclassification of the remaining VUSs and to further exploring the prevalence and phenotype of this rare disease.' Dr Joshua Milner, MD, Director Division of Pediatric Allergy, Immunology and Rheumatology at Columbia University Irving Medical Center, commented: 'This study offers a powerful new lens for interpreting VUSs and uncovering therapeutic insights in conditions like APDS. We hope these findings will support clinicians in making more informed decisions and ultimately lead to better outcomes for patients navigating rare immune disorders.' Note: This study was supported by a National Institutes of Health (NIH)/National Cancer Institute (NCI) grant and was in part supported through a sponsored research agreement with Pharming. The webcast will take place on Monday, June 30, 2025, at 16:30 CEST / 10:30 EDT. To participate, please register at Questions can be submitted in advance, via email to investor@ For more information and to access the full peer-reviewed study in Cell, please visit About Activated Phosphoinositide 3-Kinase δ Syndrome (APDS) APDS is a rare primary immunodeficiency that was first characterized in 2013. APDS is caused by variants in either one of two identified genes known as PIK3CD or PIK3R1, which are vital to the development and function of immune cells in the body. Variants of these genes lead to hyperactivity of the PI3Kδ (phosphoinositide 3-kinase delta) pathway, which causes immune cells to fail to mature and function properly, leading to immunodeficiency and dysregulation1,2,3 APDS is characterized by a variety of symptoms, including severe, recurrent sinopulmonary infections, lymphoproliferation, autoimmunity, and enteropathy.4,5 Because these symptoms can be associated with a variety of conditions, including other primary immunodeficiencies, it has been reported that people with APDS are frequently misdiagnosed and suffer a median 7-year diagnostic delay.6 As APDS is a progressive disease, this delay may lead to an accumulation of damage over time, including permanent lung damage and lymphoma.4-7 A definitive diagnosis can be made through genetic testing. APDS affects approximately 1 to 2 people per million worldwide. About leniolisibLeniolisib is an oral small molecule phosphoinositide 3-kinase delta (PI3Kẟ) inhibitor approved in the U.S., U.K., Australia and Israel as the first and only targeted treatment of activated phosphoinositide 3-kinase delta (PI3Kδ) syndrome (APDS) in adult and pediatric patients 12 years of age and older. Leniolisib inhibits the production of phosphatidylinositol-3-4-5-trisphosphate, which serves as an important cellular messenger and regulates a multitude of cell functions such as proliferation, differentiation, cytokine production, cell survival, angiogenesis, and metabolism. Results from a randomized, placebo-controlled Phase III clinical trial demonstrated statistically significant improvement in the coprimary endpoints, reflecting a favorable impact on the immune dysregulation and deficiency seen in these patients, and interim open label extension data has supported the safety and tolerability of long-term leniolisib administration.8,9 Leniolisib is currently under regulatory review in the European Economic Area, Canada and several other countries for APDS, with plans to pursue regulatory approval in Japan. Leniolisib is also being evaluated in two Phase III clinical trials in children with APDS and in two Phase II clinical trials in primary immunodeficiencies (PIDs) with immune dysregulation. The safety and efficacy of leniolisib has not been established for PIDs with immune dysregulation beyond APDS. About Pharming Group N.V. Pharming Group N.V. (EURONEXT Amsterdam: PHARM/Nasdaq: PHAR) is a global biopharmaceutical company dedicated to transforming the lives of patients with rare, debilitating, and life-threatening diseases. We are commercializing and developing a portfolio of innovative medicines, including small molecules and biologics. Pharming is headquartered in Leiden, the Netherlands, and has employees around the globe who serve patients in over 30 markets in North America, Europe, the Middle East, Africa, and Asia-Pacific. For more information, visit and find us on LinkedIn. Forward-Looking Statements This press release may contain forward-looking statements. Forward-looking statements are statements of future expectations that are based on management's current expectations and assumptions and involve known and unknown risks and uncertainties that could cause actual results, performance, or events to differ materially from those expressed or implied in these statements. These forward-looking statements are identified by their use of terms and phrases such as 'aim', 'ambition', ''anticipate'', ''believe'', ''could'', ''estimate'', ''expect'', ''goals'', ''intend'', ''may'', 'milestones', ''objectives'', ''outlook'', ''plan'', ''probably'', ''project'', ''risks'', 'schedule', ''seek'', ''should'', ''target'', ''will'' and similar terms and phrases. Examples of forward-looking statements may include statements with respect to timing and progress of Pharming's preclinical studies and clinical trials of its product candidates, Pharming's clinical and commercial prospects, 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, commercial, competitive and technical developments. In light of these risks and uncertainties, and other risks and uncertainties that are described in Pharming's 2024 Annual Report and the Annual Report on Form 20-F for the year ended December 31, 2024, filed with the U.S. Securities and Exchange Commission, 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. All forward-looking statements contained in this press release are expressly qualified in their entirety by the cautionary statements contained or referred to in this section. Readers should not place undue reliance on forward-looking statements. 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. Pharming does not undertake any obligation to publicly update or revise any forward-looking statement as a result of new information, future events or other information. References Lucas CL, et al. Nat Immunol. 2014;15(1):88-97. Elkaim E, et al. J Allergy Clin Immunol. 2016;138(1):210-218. Nunes-Santos C, Uzel G, Rosenzweig SD. J Allergy Clin Immunol. 2019;143(5):1676-1687. Coulter TI, et al. J Allergy Clin Immunol. 2017;139(2):597-606. Maccari ME, et al. Front Immunol. 2018;9:543. Jamee M, et al. Clin Rev Allergy Immunol. 2020 Dec;59(3):323-333. Condliffe AM, Chandra A. Front Immunol. 2018;9:338. Rao VK, et al Blood. 2023 Mar 2;141(9):971-983. Rao VK, et al. J Allergy Clin Immunol 2024;153:265-74. For further public information, contact:Pharming Group, Leiden, the NetherlandsMichael Levitan, VP Investor Relations & Corporate CommunicationsT: +1 (908) 705 1696E: investor@ FTI Consulting, London, UKSimon Conway/Alex Shaw/Amy ByrneT: +44 203 727 1000 LifeSpring Life Sciences Communication, Amsterdam, the NetherlandsLeon MelensT: +31 6 53 81 64 27E: pharming@ US PRChristina SkrivanT: +1 (636) 352-7883E: Attachment Pharming to host webcast on study published in Cell on VUSs_EN_24JUN25
Yahoo
5 days ago
- Health
- Yahoo
Pharming Group to host webcast on findings of a new study published in Cell advancing functional classification of variants of uncertain significance (VUS) to improve APDS diagnosis
For media and investors only Researchers identified variants which may cause activated phosphoinositide 3-kinase delta (PI3Kδ) syndrome (APDS) Results enable clinical genetic testing labs to appropriately reclassify VUSs, accelerating the path to a definitive APDS diagnosis for many patients Findings reveal APDS may be more prevalent than previously estimated Webcast to take place on Monday, June 30, 2025, at 16:30 CEST / 10:30 EDT Leiden, the Netherlands, June 24, 2025: Pharming Group N.V. ('Pharming' or 'the Company') (EURONEXT Amsterdam: PHARM/Nasdaq: PHAR) announces it will host a webcast for investors and analysts featuring Joshua Milner, MD, an internationally renowned immunologist, to discuss the findings of a recent study published in the peer-reviewed journal Cell. The study titled 'Scalable generation and functional classification of genetic variants in inborn errors of immunity for improved clinical diagnosis and management' was led by Zachary Walsh, MD/PhD candidate, Dr. Milner and Benjamin Izar, MD, PhD of Columbia University. The publication details significant advances in diagnosing inborn errors of immunity, also known as primary immune disorders. The researchers' approach helps resolve a major limit to interpretation of genetic testing that often yields variants of uncertain significance (VUS) when evaluating such disorders, including activated phosphoinositide 3-kinase delta (PI3Kδ) syndrome (APDS). There are currently over 1,300 known U.S. patients with a VUS in the PIK3CD and PIK3R1 genes implicated in APDS. The team at Columbia introduced more than 2,000 PIK3CD/PIK3R1 variants, representing a portion of all potential variants, into human T-cell lines and assessed PI3Kδ pathway activity. These studies successfully confirmed known disease-causing APDS variants and, importantly, also identified over 100 new variants with evidence for PI3Kδ pathway hyperactivity. By analyzing very large datasets of patients who agreed to have their genetic testing linked to their medical records, the research team at Columbia concludes that the real prevalence of APDS may be higher than previously estimated. During the call, Dr. Milner will provide insights into the study's methodology, key findings, implications, and next steps. Anurag Relan, Pharming Chief Medical Officer, will lead a Q&A session with Dr. Milner and discuss next steps to collaborate with genetic testing laboratories on their VUS reclassification efforts, extend the study to assess additional variants, and further investigate the clinical phenotype of APDS in the newly identified variants. Anurag Relan, MD, MPH, Chief Medical Officer of Pharming, commented: 'This important study, recently published in Cell, is a key step towards providing answers to patients with a VUS in the PIK3CD or PIK3R1 genes. The study highlights the importance of increased genetic screening and awareness to ensure timely diagnosis of APDS. We expect these data to enable clinical genetic testing laboratories to reclassify a portion of the VUSs, accelerating the path to a definitive APDS diagnosis for many patients. We look forward to additional near-term studies to facilitate the reclassification of the remaining VUSs and to further exploring the prevalence and phenotype of this rare disease.' Dr Joshua Milner, MD, Director Division of Pediatric Allergy, Immunology and Rheumatology at Columbia University Irving Medical Center, commented: 'This study offers a powerful new lens for interpreting VUSs and uncovering therapeutic insights in conditions like APDS. We hope these findings will support clinicians in making more informed decisions and ultimately lead to better outcomes for patients navigating rare immune disorders.' Note: This study was supported by a National Institutes of Health (NIH)/National Cancer Institute (NCI) grant and was in part supported through a sponsored research agreement with Pharming. The webcast will take place on Monday, June 30, 2025, at 16:30 CEST / 10:30 EDT. To participate, please register at Questions can be submitted in advance, via email to investor@ For more information and to access the full peer-reviewed study in Cell, please visit About Activated Phosphoinositide 3-Kinase δ Syndrome (APDS) APDS is a rare primary immunodeficiency that was first characterized in 2013. APDS is caused by variants in either one of two identified genes known as PIK3CD or PIK3R1, which are vital to the development and function of immune cells in the body. Variants of these genes lead to hyperactivity of the PI3Kδ (phosphoinositide 3-kinase delta) pathway, which causes immune cells to fail to mature and function properly, leading to immunodeficiency and dysregulation1,2,3 APDS is characterized by a variety of symptoms, including severe, recurrent sinopulmonary infections, lymphoproliferation, autoimmunity, and enteropathy.4,5 Because these symptoms can be associated with a variety of conditions, including other primary immunodeficiencies, it has been reported that people with APDS are frequently misdiagnosed and suffer a median 7-year diagnostic delay.6 As APDS is a progressive disease, this delay may lead to an accumulation of damage over time, including permanent lung damage and lymphoma.4-7 A definitive diagnosis can be made through genetic testing. APDS affects approximately 1 to 2 people per million worldwide. About leniolisibLeniolisib is an oral small molecule phosphoinositide 3-kinase delta (PI3Kẟ) inhibitor approved in the U.S., U.K., Australia and Israel as the first and only targeted treatment of activated phosphoinositide 3-kinase delta (PI3Kδ) syndrome (APDS) in adult and pediatric patients 12 years of age and older. Leniolisib inhibits the production of phosphatidylinositol-3-4-5-trisphosphate, which serves as an important cellular messenger and regulates a multitude of cell functions such as proliferation, differentiation, cytokine production, cell survival, angiogenesis, and metabolism. Results from a randomized, placebo-controlled Phase III clinical trial demonstrated statistically significant improvement in the coprimary endpoints, reflecting a favorable impact on the immune dysregulation and deficiency seen in these patients, and interim open label extension data has supported the safety and tolerability of long-term leniolisib administration.8,9 Leniolisib is currently under regulatory review in the European Economic Area, Canada and several other countries for APDS, with plans to pursue regulatory approval in Japan. Leniolisib is also being evaluated in two Phase III clinical trials in children with APDS and in two Phase II clinical trials in primary immunodeficiencies (PIDs) with immune dysregulation. The safety and efficacy of leniolisib has not been established for PIDs with immune dysregulation beyond APDS. About Pharming Group N.V. Pharming Group N.V. (EURONEXT Amsterdam: PHARM/Nasdaq: PHAR) is a global biopharmaceutical company dedicated to transforming the lives of patients with rare, debilitating, and life-threatening diseases. We are commercializing and developing a portfolio of innovative medicines, including small molecules and biologics. Pharming is headquartered in Leiden, the Netherlands, and has employees around the globe who serve patients in over 30 markets in North America, Europe, the Middle East, Africa, and Asia-Pacific. For more information, visit and find us on LinkedIn. Forward-Looking Statements This press release may contain forward-looking statements. Forward-looking statements are statements of future expectations that are based on management's current expectations and assumptions and involve known and unknown risks and uncertainties that could cause actual results, performance, or events to differ materially from those expressed or implied in these statements. These forward-looking statements are identified by their use of terms and phrases such as 'aim', 'ambition', ''anticipate'', ''believe'', ''could'', ''estimate'', ''expect'', ''goals'', ''intend'', ''may'', 'milestones', ''objectives'', ''outlook'', ''plan'', ''probably'', ''project'', ''risks'', 'schedule', ''seek'', ''should'', ''target'', ''will'' and similar terms and phrases. Examples of forward-looking statements may include statements with respect to timing and progress of Pharming's preclinical studies and clinical trials of its product candidates, Pharming's clinical and commercial prospects, 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, commercial, competitive and technical developments. In light of these risks and uncertainties, and other risks and uncertainties that are described in Pharming's 2024 Annual Report and the Annual Report on Form 20-F for the year ended December 31, 2024, filed with the U.S. Securities and Exchange Commission, 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. All forward-looking statements contained in this press release are expressly qualified in their entirety by the cautionary statements contained or referred to in this section. Readers should not place undue reliance on forward-looking statements. 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. Pharming does not undertake any obligation to publicly update or revise any forward-looking statement as a result of new information, future events or other information. References Lucas CL, et al. Nat Immunol. 2014;15(1):88-97. Elkaim E, et al. J Allergy Clin Immunol. 2016;138(1):210-218. Nunes-Santos C, Uzel G, Rosenzweig SD. J Allergy Clin Immunol. 2019;143(5):1676-1687. Coulter TI, et al. J Allergy Clin Immunol. 2017;139(2):597-606. Maccari ME, et al. Front Immunol. 2018;9:543. Jamee M, et al. Clin Rev Allergy Immunol. 2020 Dec;59(3):323-333. Condliffe AM, Chandra A. Front Immunol. 2018;9:338. Rao VK, et al Blood. 2023 Mar 2;141(9):971-983. Rao VK, et al. J Allergy Clin Immunol 2024;153:265-74. For further public information, contact:Pharming Group, Leiden, the NetherlandsMichael Levitan, VP Investor Relations & Corporate CommunicationsT: +1 (908) 705 1696E: investor@ FTI Consulting, London, UKSimon Conway/Alex Shaw/Amy ByrneT: +44 203 727 1000 LifeSpring Life Sciences Communication, Amsterdam, the NetherlandsLeon MelensT: +31 6 53 81 64 27E: pharming@ US PRChristina SkrivanT: +1 (636) 352-7883E: Attachment Pharming to host webcast on study published in Cell on VUSs_EN_24JUN25
