DNA Repair-Deficiency Disorders

Genetic testing to identify women with Lynch Syndrome is likely to need to increase dramatically to ensure that carriers are not missed, a new analysis has found. A study by The Institute of Cancer Research, London, and published in the Journal of Medical Genetics, has revealed that only a fraction of women diagnosed with endometrial (womb) cancer were tested for Lynch Syndrome in 2019, according to an analysis of lab data. Lynch Syndrome is an inherited condition that greatly increases the lifetime risk of certain types of cancer, including bowel, ovarian, pancreatic and womb cancers. It is thought to affect 175,000 people in England, although currently only approximately five per cent are aware they have it. Because womb cancer is often the first cancer that women with Lynch Syndrome develop, genetic testing is an effective way to spot cases. In 2020, the National Institute for Health and Care Excellence (NICE) introduced guidelines which recommended that everyone diagnosed with womb cancer should be tested for Lynch. However, a baseline analysis, carried out by a team from The Institute of Cancer Research (ICR) found that of the 7,928 women who were diagnosed with womb cancer in 2019, just 1408 (17.8 per cent) were given a tumour test (typically an immunohistochemistry (IHC) test) to check for abnormal cells. Of the 104 patients who were then identified as being eligible for genetic testing, only 25 per cent had a test result recorded. Of these 26 patients, 15 had Lynch Syndrome. The study, which received funding from The Wellcome Trust, and Cancer Research UK, and was conducted in partnership with the National Disease Registration Service, also showed there were significant delays between patients getting their cancer diagnosis and receiving a genetic test. The median time from cancer diagnosis to germline testing was 315 days, with the longest wait time from diagnosis to testing at over two years (837 days). Earlier this year, the National Disease Registration Service (NDRS), NHS Genomic Medicine Service Alliances (GMSAs) and NHS Regional Clinical Genetics Services, together with researchers from the ICR, set up The English National Lynch Syndrome Registry. The database, which comprises of 9,000 patients with Lynch Syndrome, will ensure participants are called up for regular bowel cancer screening to detect the disease in earlier stages, when treatment is more successful. In addition, researchers will be able to find patients who are eligible for clinical trials, speeding up the process and ensuring that treatments can reach patients faster. Dr Catherine Huntley, a specialist public health doctor at The Institute of Cancer Research, who conducted the analyses, said: “For female patients with Lynch Syndrome, endometrial cancer is often their first cancer diagnosis. Tumour testing followed by genetic testing is an effective way of identifying the three per cent of cases – approximately 240 people with endometrial cancer – every year caused by Lynch Syndrome. “However, our study shows that historically, testing rates appeared to be very low. It’s imperative that women with endometrial cancer have routine testing of their tumours to prevent opportunities to diagnose Lynch Syndrome being missed. Identifying patients with Lynch Syndrome provides us with a valuable opportunity to prevent further cancers in that patient. Delays in starting preventative strategies such as taking aspirin and having regular colonoscopies could lead to bowel cancers being diagnosed at later stages when they are much harder to treat. Professor Clare Turnbull, Professor of Translational Cancer Genetics at The Institute of Cancer Research, London, and Consultant in Clinical Cancer Genetics at The Royal Marsden NHS Foundation Trust, who led the analysis, said: “Having a Lynch Syndrome diagnosis helps to guide more personalised cancer treatment but also enables families and relatives of that patient to be offered testing too. Relatives who have Lynch Syndrome can be referred to genetic services to help catch any cancers as early as possible.”

TAIPEI, Jan. 13, 2025 /PRNewswire/ -- Foresee Pharmaceuticals (TPEx: 6576), ("Foresee") announces that the U.S. Food and Drug Administration (FDA) issued a Day-74 letter. The Day-74 letter states that the PDUFA goal date for a decision on marketing approval for the 3-month version of CAMCEVI (leuprolide mesylate 21 mg, 3-month long-acting injectable (LAI) formulation) for the treatment of adult patients with advanced prostate cancer is August 29, 2025. "This marks another important regulatory milestone for the CAMCEVI franchise," said Dr. Ben Chien, Founder and Chairman of Foresee. "With the PDUFA goal date now set, we look forward to working with the FDA through the regulatory process to bring this treatment option closer to potential regulatory approval, followed by the successful commercial launch of CAMCEVI 21 mg in near future, providing patients and the medical community with a 3-month CAMCEVI LAI in addition to CAMCEVI 42 mg 6-month LAI, currently on the market. Foresee will have a complete, differentiated ready-to-use franchise." The NDA submission for the 3-month version of CAMCEVI is supported by a previously communicated successful Phase 3 clinical study with a total of 144 advanced prostate carcinoma patients enrolled, in which treatment with leuprolide mesylate injection every 3 months was demonstrated to be effective, safe and well tolerated, with 97.9% of the subjects achieving the primary efficacy endpoint. About Foresee Pharmaceuticals Co., Ltd. Foresee is a Taiwan and US-based biopharmaceutical company listed on the Taipei Exchange (TPEx: 6576). Foresee's R&D efforts are focused on two key areas, namely its unique Stabilized Injectable Formulation (SIF) long-acting injectable (LAI) technology with derived drug products targeting specialty markets and secondly, its transformative preclinical and clinical first-in-class NCE programs targeting rare and severe disease areas with high unmet needs. Foresee's product portfolio includes late and early-stage programs. CAMCEVI 42 mg or the treatment of advanced prostate cancer, is now approved in the U.S., Canada, EU, Taiwan, Israel, and the UK and was launched in the U.S. in April 2022. Additionally, the U.S. NDA for the 3-month version of CAMCEVI has been submitted, while the EU regulatory submission for the 3-month version of CAMCEVI is still under preparation. For the second indication of CAMCEVI 6-month LAI formulation, central precocious puberty (CPP), the Casppian Phase 3 clinical study, is ongoing. CAMCEVI 6-month LAI formulation is also being developed in a Phase 3 clinical trial in premenopausal breast cancer in China in collaboration with its partner. Aderamastat (FP-025), a highly selective oral MMP-12 inhibitor targeting inflammatory and fibrotic diseases, has been investigated in a Phase 2 proof-of-concept study in allergic asthmatic patients. The study had positive outcomes, with future development in rare immune-fibrotic diseases. Linvemastat (FP-020), a follow-on oral MMP-12 inhibitor, for which a Phase 1 study in healthy volunteers has been successfully completed, with development targeted in severe asthma, COPD and IBD. Mirivadelgat (FP-045) is a highly selective oral small molecule allosteric activator of ALDH2, a mitochondrial enzyme, for which the FuschiA Phase 1b/2 Fanconi Anemia study is ongoing, and the Phase 2 WINDWARD study in pulmonary hypertension-interstitial lung disease (PH-ILD) patients is in planning with targeted initiation in the first quarter of 2025. Building on the compelling biology of ALDH2, and translational data from several Foresee ALDH2 activators, a follow-on candidate from a new series of compounds is being selected for development in metabolic syndrome/healthy weight loss and the broader cardiovascular-renal-metabolic space. SOURCE Foresee Pharmaceuticals Co., Ltd. WANT YOUR COMPANY'S NEWS FEATURED ON PRNEWSWIRE.COM? 440k+ Newsrooms & Influencers 9k+ Digital Media Outlets 270k+ Journalists Opted In GET STARTED

DALLAS--( BUSINESS WIRE )--AIC, a division of AIS Healthcare, now offers ALYGLO™, manufactured by GC Biopharma, for the treatment of patients with primary humoral immunodeficiency (PI) in adults. This includes, but is not limited to, the humoral immune defect in congenital agammaglobulinemia, common variable immunodeficiency (CVID), X-linked agammaglobulinemia, Wiskott-Aldrich syndrome, and severe combined immunodeficiency (SCID). The nationally accredited home infusion teams at AIC collaborate closely with physicians to provide specialized infusion services to patients in their home or in an infusion suite setting. This new immunoglobulin (Ig) therapeutic option will expand AIC’s ability to better serve PI patients. “We are excited to add ALGYLO™ to our expansive list of Ig infusion therapies,” said Jud Hall, President of AIC. “AIC is proud to partner with GC Biopharma to offer this extra-purified IVIg replacement therapy as another treatment option to patients nationwide,” added Stan Singley, Vice President of Trade & Procurement. Approved by the U.S. Food and Drug Administration in 2023, ALGYLO™ is now available at all AIC locations (Valdosta, GA; Birmingham, AL; Panama City, FL; Cockeysville, MD; and Dallas, TX). Like all AIC patients, those with PI will receive a high level of care from AIC, including 24/7 access to clinical and support staff. Every patient is assigned a dedicated team of professionals, including clinical pharmacists, home infusion nurses, RN clinical review specialists, and patient access specialists to provide support throughout the treatment process. For physicians, AIC is more than a specialty pharmacy. We are a full-service care delivery partner, and we have contracts with multiple immunoglobulin suppliers, like GC Biopharma. These contracts help us ensure prescribed therapies are always in stock. We also work directly with patients, insurance companies, and physician offices to secure all needed insurance authorizations and approvals. AIS Healthcare is dually accredited by URAC and the Accreditation Commission for Health Care (ACHC), further setting it apart from other infusion services providers. Physicians interested in AIC care services should contact their AIC representatives to get started or visit us at www.aiscaregroup.com/our-divisions/infusion-care/ About AIS Healthcare Advancing quality. Improving lives. As the leading provider of infusion care solutions and targeted drug delivery, AIS Healthcare is committed to doing more of what matters. From pharmacies that put patient safety first to comprehensive services that enhance the entire care experience, we go beyond the expected in everything we do. Learn more at aiscaregroup.com . About GC Biopharma GC Biopharma is a global biopharmaceutical company, and a pioneer in the field of specialty pharmaceuticals. It is committed to improving the lives of people around the world and has built a global network of professionals and facilities to make this vision a reality. GC Biopharma manufactured its first plasma-derived therapy in South Korea in 1971. Since then, the company has grown to become one of the top pharmaceutical manufacturers of plasma therapeutics in the world, distributing to more than 50 countries. Throughout its history, which spans more than half a century, GC Biopharma has focused heavily on plasma-derived drug products. With one of the largest plasma manufacturing facilities in the world, it is devoted to developing new drugs to achieve its mission and vision. https://gcbiopharma.us/