Somerville Development Partners Limited’s Post

Yesterday was #RareDiseaseDay. The annual observance highlights how far the #biopharma industry has come and serves as a wake-up call for how far it must still go to meet the needs of #raredisease patients. Despite recent investment and breakthroughs for #rarediseases, experts told BioSpace that helping a much larger patient population will require cross-sector support and desperately needed funding. We looked at some of the investments to date, as well as the biopharma industry’s promising pipelines and what is required to bring more groundbreaking therapies to patients with unmet medical needs. #Patientadvocacy groups have been critical to the development of the first marketed drugs for certain rare diseases, including progeria and Friedreich's ataxia. We spoke with leaders of these groups formed by families coping with rare diseases, providing case studies on their partnerships with biopharma companies. https://lnkd.in/g7R6hU23 #RareDiseaseDay2024 #genetherapy #genetherapies #duchenne #duchennemusculardystrophy #biopharmaceuticals

Vertex Pharmaceuticals moves #inaxaplin into Phase III trials for APOL-1 mediated kidney disease (AKMD), targeting the disease at its genetic roots. Phase II data showed a significant reduction in proteinuria, spotlighting inaxaplin's potential to transform AKMD treatment. Key Takeaways - 🔹 Impact - Offers new hope to ~100,000 affected patients in the U.S. and Europe. 🔹 Insight - Early and persistent efficacy in reducing proteinuria, with a safety profile that supports its use. 🔹 Discussion Point - How could inaxaplin’s approval change the landscape of kidney disease treatment? #KidneyDisease #ClinicalTrials #HealthcareInnovation

The incredible weight loss transformations induced by obesity drugs targeting GLP-1 have amplified interest in this pathway to target metabolic diseases. We offer a variety of humanized mouse models to evaluate preclinical efficacy and toxicity of novel therapeutic candidates targeting GLP1R, PCSK9, and other regulators implicated in metabolic diseases such as obesity and hyperlipidemia. Check out our B-hGLP1R mice (https://lnkd.in/eTcsmYay), B-hGLP1R/hGCGR mice (https://lnkd.in/eF2WrC_7) and B-hPCSK9 mice (https://lnkd.in/e3VDXpU5). #metabolicdisease #Obesity #glp1forweightloss #gpcr #GLP1 #PCSK9 #glp1medication #glp1weightloss #MouseModel #pharmacology

Today is Rare Disease Day - the official international awareness raising campaign for the 300 million people currently living with one of the 6,000+ rare diseases worldwide. The primary goal of the campaign is to increase awareness amongst the general public and decision-makers about rare diseases and their influence on the lives of families living with these conditions. In the article below, BAP Pharma's Group Director of Medicines Access and UK General Manager - Rebecca Bibby - highlights our Medicines Access team's commitment to bridge the gap between patients and companies developing advanced medical treatments, providing access to combat rare diseases across the globe. https://lnkd.in/ej5q4BwU For more information on how BAP Pharma can support your medicines access needs, please contact us at bd@bappharma.com or visit our website at www.bappharma.com #rarediseaseday #raredisease #medicinesaccess #marketaccess #clinicaltrials #cellandgenetherapy #celltherapy #generaltherapy #biotech #medicine #pharmaceuticals #oncology #patientexperience #pharmacy #pharmacists #orphandrugs #biotechnology #nhs

This is another piece of very exciting news!! Another green light for a #crispr clinical trial. And not only that, but also the first Prime Editor! #crisprcas9 #crisprtherapeutics #genetherapy #geneediting #genomeediting #celltherapy #rnatherapeutics

Yesterday, the FDA announced plans to launch a Rare Disease Innovation Hub that will utilise new and collaborative approaches to expedite the development and approval of safe and effective drugs and biologics that treat rare diseases. One out of every 10 people in the US are affected by a rare disease and around half of these people are children. Many rare conditions are life-threatening, and most do not have approved treatments. The new Hub will work across rare diseases with a focus on products intended for smaller populations or for diseases where the natural history is variable and not fully understood. It will serve as a single point of connection and engagement with the rare disease community; enhance agency collaboration to address common scientific, clinical and policy issues related to rare disease product development; and advance regulatory science. Having supported organisations across the globe with the development of medicines for rare diseases, Boyds warmly welcomes this promising initiative which ultimately aims to improve outcomes for people living with rare diseases by providing new therapeutic options. Find out more: https://lnkd.in/egJKYwvs #rarediseases #fda #innovationhub #medicine

🇺🇸The FDA is launching a Rare Disease Innovation Hub to enhance the development and approval of treatments for rare diseases. Connecting with patient communities, fostering intercenter collaboration, and advancing regulatory science will be the focus. This initiative co-led by the directors of CDER and CBER is expected to significantly improve outcomes for patients with rare diseases by streamlining the development of new therapies and leveraging cross-agency expertise and existing programs. 🇬🇧 The Medicines and Healthcare products Regulatory Agency (MHRA) has initiatives similar to the FDA's Rare Disease Innovation Hub. One notable initiative is the Rare Therapies Launch Pad (RTLP) announced in the UK’s 2023 Autumn Statement. This program aims to develop a new pathway for the development and access to novel medicines, particularly targeting children with rare and life-threatening conditions. It involves collaboration among Genomics England, the MHRA, Oxford-Harrington Rare Disease Centre, the Association of the British Pharmaceutical Industry (ABPI), and Mila’s Miracle Foundation. Additionally, the UK government has established the Rare Diseases Action Plan, which aligns with the UK Rare Diseases Framework. This plan focuses on improving diagnosis, increasing awareness among healthcare professionals, coordinating care, and enhancing access to specialist treatments. It includes actions like enhancing genomic testing communication, implementing networked models of care, and addressing health inequalities for those with rare conditions. However, the continuity of the UK's Rare Disease Action Plan is a topic of concern with the new Labour government which has not specifically mentioned rare diseases in their manifesto but have committed to advancing health innovation, such as genomics, which is crucial for rare disease diagnostics and treatments.

Gene-editing therapy #Casgevy (exa-cel) has received early FDA approval to treat transfusion-dependent β-#thalassaemia (TDT). This comes less than six weeks after the US regulator approved Casgevy for treating #patients with #sicklecell disease (SCD). With the TDT approval, Casgevy becomes the first CRISPR-based gene-editing treatment in the US for this #blooddisorder. In 2022, Bluebird Bio also secured FDA-approval for their #genetherapy, #Zynteglo, to treat TDT. The FDA endorsement arrived over two months ahead of schedule, as a decision was initially expected on March 30. "Following the historic FDA decision on Casgevy for sickle cell disease, we're thrilled to secure approval for TDT well before the PDUFA date," said Reshma Kewalramani, MD FASN, Vertex Pharmaceuticals' CEO. Vertex announced the opening of nine authorized treatment centers (#ATCs) in the United States to administer Casgevy to #patients, covering both indications. Additional ATCs will be activated in the coming weeks. https://lnkd.in/dze-kDTn

An estimated 10,000+ rare diseases affect more than 30 million people – approximately one out of every 10 people – in the U.S., and about half of these people are children. Many rare conditions are life threatening, and most do not have approved treatments.    The FDA plans to establish a Rare Disease Innovation Hub (the Hub). The Hub will work across rare diseases but will especially focus on products intended for smaller populations or for diseases where the natural history is variable and not fully understood, since the development of therapies for these conditions can be particularly challenging.   Learn more about the Hub’s three primary functions from the FDA’s Patrizia Cavazzoni, MD, Director, Center for Drug Evaluation and Research and Peter Marks, MD, PhD, Director, Center for Biologics Evaluation and Research (CBER).   https://bit.ly/3WTK0TO | #RareDiseases #ClinicalResearch #DrugDevelopement #ClinicalTrials Answers Media Network