Histiocytosis, Langerhans-Cell

CAMBRIDGE, England, NEWCASTLE, England and BENGALURU, India , June 25, 2024 /PRNewswire/ -- SKAN Research Trust (SKAN), promoted by Indian entrepreneur Ashok Soota, today announced a joint research project with the UK-based Wellcome Sanger Institute (Sanger Institute) and University of Newcastle (Newcastle), to study early somatic mutations in blood stem cells that researchers believe drive several cancerous and non-cancerous conditions. The research collaboration will extend cutting-edge stem cell genomic analysis to cancer subtypes such as Langerhans Cell Histiocytosis (LCH), an immune cell disorder that largely afflicts children aged between 0 to 15 years. Continue Reading SKAN, the Wellcome Sanger Institute and University of Newcastle to study early stem cell mutations in rare blood disorder The research project titled Deciphering the Origins of Langerhan Cell Histiocytosis and Related Histiocytic Neoplasms will be led by Dr Jyoti Nangalia, Group Leader at the Wellcome Sanger Institute and Wellcome-MRC Stem Cell Institute. The study will examine the timestamp of the genetic mutations that drives LCH and the presentation of its clinical symptoms. Researchers will work with leading LCH treating research centres worldwide to cover LCH driven by different genetic mutations with SKAN specifically creating a large cohort of Indian children for the study. The study comes at a time when researchers are still grappling with understanding how some genetic mutations that drive LCH result in lesions appearing in different parts of the body at different times. Researchers hope that the study will pave the way for better understanding the disease's progression and possible early interventionist strategies for its management. Mr. Ashok Soota, the Chairman & Managing Trustee of SKAN, said "We are delighted to be partnering with the Sanger Institute and University of Newcastle in a project which gives us dual benefits: understanding the mutation of stem cells and an insight into LCH, an underfunded cancer. The research is expected to develop valuable clinical tests that will aid doctors understand what to expect of each patient." Dr Jyoti Nangalia, Group Leader at the Wellcome-MRC Stem Cell Institute and Wellcome Sanger Institute, said, "These disorders are an enigma and they are likely to have a unique genomic origin. Whilst we are aware that specific mutations are able to drive the disorders, we do not understand how such events result in a multitude of tissues being affected at different times in life, nor why clinical disease often follows distinct patterns across different patients. We hope that our genomics research at the Sanger Institute will shed light on the origin and trajectory of these diseases to help patients in the future." Newcastle University and its Principal Investigator, Prof. Matthew Collin, who have played a major role in establishing diagnostic and blood monitoring pipelines for LCH, (now adopted by the UK NHS Genomic Medicine Services), will also be part of this collaboration. Prof Matthew Collin said, "For patients with these disorders, it is tremendous that state-of-the-art approaches will be brought to bear on increasing our knowledge of how they arise. We are also very excited to extend the reach of research and training to new partners in other healthcare systems." Mr Davis Karedan, Vice Chairman & Trustee of SKAN said, "This collaboration is another step in SKAN's efforts to establish a robust inhouse stem cell research capability and comes on the back of its international collaboration with the Cambridge Stem Cell Institute". About SKAN Research Trust SKAN is a Bengaluru-based not-for-profit medical research trust that leverages transformational technologies to develop new therapies for ageing and neurological ailments, cardiovascular diseases, diabetes remission and lifestyle related disorders. SKAN applies its expertise in gut microbiome, genomics, stem cells, molecular biology, biomarkers, immunotherapies, nutrition, and alternate therapies to uncover kinder and gentler treatment protocols for ailments. Bioinformatics at SKAN vigorously pursues cutting edge artificial intelligence, machine learning and other advanced technologies to predict, pre-empt, diagnose, treat, and facilitate remission of medical disorders. The Mission statement of SKAN is "Transform the future of medicine. Impacting millions of lives". Media contact: [email protected] Careers: [email protected] About Wellcome Sanger Institute Founded to sequence the human genome, the Sanger Institute is a biomedical research centre recognized globally for undertaking large scale genome science that forms the foundations of knowledge in biology and medicine. In order to deliver on its mission to "apply and explore genomic technologies at scale to advance the understanding of biology and improve health", the Sanger Institute is committed to collaborating, leading, convening, engaging globally and providing world-class training to scientists and specialists in genomic research. The Sanger Institute strategically deploys its Wellcome core funding to enable faculty-driven genomic science, making discoveries not easily made elsewhere. About University of Newcastle As a member of the Russell Group, an association of 24 research-intensive institutions in the UK, Newcastle is delivering pioneering research that makes a positive impact in the world. From reversing Type 2 diabetes to protecting cultural property, Newcastle researchers are tackling international challenges to improve lives and influence policy around the world. Newcastle has one of the largest European Union research portfolios in the UK . Photo: Logo: SOURCE SKAN Research Trust

Results Highlight Potential Utility of Targeting Mannose 6-Phosphate Pathway to Treat Multiple Lysosomal Storage DisordersST. LOUIS, Mo., Feb. 21, 2023 (GLOBE NEWSWIRE) -- M6P Therapeutics (“M6PT” or “the Company”), a privately held life sciences company developing next-generation enzyme replacement and gene therapies for lysosomal storage disorders (LSDs), today announced the presentation of promising preclinical data at the 19th Annual WORLDSymposium™, a research conference dedicated to lysosomal diseases being held in Orlando, FL, and virtually Feb. 22-26, 2023. In five poster presentations, including two Contemporary Forum presentations, M6P Therapeutics’ researchers report preclinical efficacy results for LSDs, including Gaucher disease and Pompe disease. “We are thrilled with the continued development of our S1S3 phosphotransferase platform for producing lysosomal enzymes with high levels of mannose 6-phosphate to enable much better drug targeting and delivery of therapeutic lysosomal enzymes to all affected cells and tissues,” said Cuong Do, Chairman of M6P Therapeutics. “We believe that this approach has the potential for creating more potent and effective enzyme replacement therapies and therapeutic proteins from gene therapies for the treatment of lysosomal storage disorders.” The following forum presentations and posters will be presented at the WORLDSymposium: Poster #160: S1S3 Gene Therapy for the Potential Treatment of Lysosomal Disorders Title: Novel dual promoter AAV gene therapy platform ensures production of therapeutic soluble lysosomal enzymes with high M6P content to enable broad cellular uptake and cross-correction in vivo Date and Time: Contemporary Forum Talk: Saturday, February 25, from 6:45 – 9:00 AM ET followed by:Poster Session: Saturday, February 25, 3:00 PM - 4:00 PM ETSession: Contemporary Forum Poster PresentationsPresenter (In-person): Andrew Hedman, M6PT Scientist Poster #142: M021 for the Potential Treatment of Pompe Disease Title: M021: rhGAA with optimal glycosylation profile containing very high levels of bis-phosphorylated N-glycans clears accumulated glycogen and rapidly normalizes muscle strength in treated Pompe mice Date and Time: Contemporary Forum Talk: Saturday, February 25, from 10:30 – 11:30 AM ET followed by:Poster Session: Saturday, February 25, 3:00 PM - 4:00 PM ETSession: Contemporary Forum Poster PresentationsPresenter (In-person): Russell Gotschall, Vice-President, Research & Development, M6PT Poster #227: Novel Dual-Promoter Expression Vector for Gaucher Gene Therapy Title: Novel AAV gene therapy produces β-glucocerebrosidase with high levels of M6P to enable cellular uptake and cross-correction in the CNS as a potential treatment for Type 2/3 Gaucher disease Date and Time: Saturday, February 25, 3:00 PM - 4:00 PM ETSession: Contemporary ForumPresenter (In-person): Lin Liu, Director, Research & Development, M6PT Poster #96: Intra-Nasal Delivery of M011 for Gaucher Type 2/3 Title: Highly phosphorylated β-glucocerebrosidase (M011) that targets central nervous system neurons as a potential treatment for neuronopathic Gaucher disease type 2 and 3 Date and Time: Saturday, February 25, 3:00 PM - 4:00 PM ETSession: Contemporary ForumPresenter (In-person): Michael Digruccio, M6PT Scientist Poster #99: M011 May Enable Alternative, Less-frequent ERT Dosing Strategies for Gaucher Disease Type 1 Title: Highly phosphorylated β-glucocerebrosidase (M011) has much broader tissue distribution and superior substrate reduction with potential for alternative dosing strategies for the treatment of Gaucher type 1 Date and Time: Saturday, February 25, 3:00 PM - 4:00 PM ETSession: Contemporary ForumPresenter (In-person): Hung Do, CSO, M6PT For more information, registration details and to access the live streamed events, presentations and Q&A sessions, please go to WorldSymposium. The abstracts will also be made available on the “Publications” section of M6PT’s corporate website following the presentations. About the Annual WORLDSymposium™ The WORLDSymposium™ is designed for basic, translational and clinical researchers, patient advocacy groups, clinicians, and all others who are interested in learning more about the latest discoveries related to lysosomal diseases and the clinical investigation of these advances. For additional information on the 18th Annual WORLDSymposium™, please visit https://worldsymposia.org/. About M6P Therapeutics M6P Therapeutics is a privately held, venture-backed biotechnology company developing the next-generation of targeted recombinant enzyme and gene therapies for lysosomal storage disorders (LSDs). M6P Therapeutics’ proprietary bicistronic-S1S3 platform has the unique ability to enhance phosphorylation of lysosomal enzymes for both recombinant enzyme and gene therapies, leading to improved biodistribution and cellular uptake of recombinant proteins and efficient cross-correction of gene therapy product. This can potentially lead to more efficacious treatments with lower therapy burden, as well as new therapies for currently untreated diseases. M6P Therapeutics’ team, proven in rare diseases drug development and commercialization, is dedicated to fulfilling the promise of recombinant enzyme and gene therapies by harnessing the power of protein phosphorylation using its bicistronic-S1S3 platform. M6P Therapeutics’ mission is to translate advanced science into best-in-class therapies that address unmet needs within the LSD community. For more information, please visit: www.m6ptherapeutics.com. Contact us to learn about partnering opportunities with M6P Therapeutics: M6P Therapeutics:314-236-9694info@m6ptherapeutics.com Media:Alex Van Rees, SmithSolve973-442-1555 x111alex.vanrees@smithsolve.com

DUBLIN, Jan. 13, 2023 /PRNewswire/ -- The "Global Lysosomal Disease Treatment Market Size, Share & Industry Trends Analysis Report By Disease Type (Gaucher's Diseases, Fabry Diseases, Mucopolysaccharidosis, Pompe's Syndrome), By Type of Therapy By End User, By Regional Outlook and Forecast, 2022 - 2028" report has been added to ResearchAndMarkets.com's offering. The Global Lysosomal Disease Treatment Market size is expected to reach $11 billion by 2028, rising at a market growth of 6.3% CAGR during the forecast period. Lysosomal diseases (LSDs) are a complex group of metabolic disorders that are often inherited in an autosomal recessive manner. There are currently 45 known diseases. They are caused by malfunctions in various lysosomal processes, most often by abnormalities in genes that produce catabolic enzymes responsible for the breakdown of macromolecules. As the faulty enzyme accumulates substrate, cell malfunction and clinical symptoms escalate. Other types of lysosomal dysfunction that can lead to lysosomal storage include defects in post-translational processing of lysosomal enzymes, errors in enzyme trafficking or targeting, and dysfunction of non-enzymatic transmembrane and solubilize. Lysosomal hydrolase mutations, which are implicated in the breakdown of cellular macromolecules, are the primary cause of LSDs, accounting for more than two-thirds of cases. As a result, there are many different types of lipids, glycogen, mucopolysaccharides, and glycoproteins among the storage products in LSDs that are biochemical in origin. The LSDs are all inherited as autosomal recessive characteristics, except the X-linked Fabry, Danon, and Hunter diseases. The LSDs can affect the majority of organs, either alone or as part of a multisystem illness, and are clinically very heterogeneous. Even though lysosomal enzymes are housekeeping genes and expressed in the majority of cells, the tissues on which they act are distributed much less uniformly, and this determines which tissues in any individual are affected. COVID-19 Impact Analysis The COVID-19 public health crisis has affected almost every industry. The COVID-19 outbreak has caused a significant decrease in demand for the lysosomal disease treatment size of the market across several sectors, especially the health and pharmaceutical sector, as coronavirus crises sweep the globe and force healthcare providers to devote a large percentage of their funds to fighting COVID-19. The risk of infection was the primary factor contributing to the delays in treatment that patients with lysosomal storage disorder encountered in hospitals. The COVID-19 outbreak harms the market's value in 2022 and beyond because it will delay the development of the worldwide market for lysosomal disease treatments. Market Growth Factors Incidence of Lysosomal Disorders Are Rising The primary driving forces in the enzyme replacement therapy market are the expanding research and development for lysosomal disease diagnosis and drug development for treatment. The increasing incidence of lysosomal disease will be a key factor contributing to the acceleration of the market's growth rate. According to a report published by the National Center for Biotechnology Information, the prevalence of Fabry disease in communities of white, male individuals ranged from 1:17,000 to 1:117,000 in January 2020. Atypical presentations were associated with around 1:6000-1:40,000 females and 1:1000-1:3000 males, whereas 1:22,000-1:40,000 males had the classic Fabry disease mutations. Financial Incentives for Developing Orphan Drugs to Recoup R&D Expenses The increases in healthcare spending, which helps to improve its infrastructure, is a crucial element affecting the market's growth rate for therapies for lysosomal diseases. The market dynamics will be further impacted by various government organizations' efforts to strengthen the healthcare infrastructure by boosting funding. Additionally, the market for lysosomal disease therapies will grow as a result of the rising acceptance rate of early diagnosis and the increasing number of government programs to raise awareness. Along with this, expanding government benevolent programs and an increase in disposable money is expected to accelerate market expansion. Marketing Restraining Factor: The Treatment of Stem Cells Is Fraught with Issues Many of the issues that can arise soon after the transplant are caused by the bone marrow being destroyed just before it by drugs or radiation. Some may be unintended consequences of the conditioning procedures themselves. The patient can get support from the transplant team to manage side effects. Most can be addressed to make the patient feel better, and some can be prevented. This is not a comprehensive list, so please inform the physician or the transplant team of any issues or adjustments that experience. Key Topics Covered: Chapter 1. Market Scope & Methodology Chapter 2. Market Overview 2.1 Introduction 2.1.1 Overview 2.1.1.1 Market composition & scenarios 2.2 Key Factors Impacting the Market 2.2.1 Market Drivers 2.2.2 Market Restraints Chapter 3. Global Lysosomal Disease Treatment Market by Disease Type 3.1 Global Gaucher's Diseases Market by Region 3.2 Global Fabry Diseases Market by Region 3.3 Global Mucopolysaccharidosis Market by Region 3.4 Global Pompe's Syndrome Market by Region 3.5 Global Others Market by Region Chapter 4. Global Lysosomal Disease Treatment Market by Type of Therapy 4.1 Global Enzyme Replacement Therapy Market by Region 4.2 Global Substrate Reduction Therapy Market by Region 4.3 Global Stem Cell Therapy Market by Region 4.4 Global Others Market by Region Chapter 5. Global Lysosomal Disease Treatment Market by End User 5.1 Global Hospitals Market by Region 5.2 Global Clinics Market by Region 5.3 Global Others Market by Region Chapter 6. Global Lysosomal Disease Treatment Market by Region Chapter 7. Company Profiles 7.1 Merck & Co., Inc. 7.1.1 Company Overview 7.1.2 Financial Analysis 7.1.3 Segmental and Regional Analysis 7.1.4 Research & Development Expenses 7.2 Johnson & Johnson (Janssen Global Services, LLC) 7.2.1 Company Overview 7.2.2 Financial Analysis 7.2.3 Segmental &Regional Analysis 7.2.4 Research & Development Expenses 7.3 Eli Lilly And Company 7.3.1 Company Overview 7.3.2 Financial Analysis 7.3.3 Regional Analysis 7.3.4 Research & Development Expenses 7.3.5 Recent strategies and developments: 7.3.5.1 Acquisition and Mergers: 7.4 Pfizer, Inc. 7.4.1 Company Overview 7.4.2 Financial Analysis 7.4.3 Regional & Segmental Analysis 7.4.4 Research & Development Expense 7.4.5 Recent strategies and developments: 7.4.5.1 Partnerships, Collaborations, and Agreements: 7.5 Takeda Pharmaceutical Company Limited 7.5.1 Company Overview 7.5.2 Financial Analysis 7.5.3 Regional Analysis 7.5.4 Research & Development Expense 7.6 Sanofi S.A. 7.6.1 Company Overview 7.6.2 Financial Analysis 7.6.3 Segmental and Regional Analysis 7.6.4 Research & Development Expense 7.6.5 Recent strategies and developments: 7.6.5.1 Approvals and Trials: 7.7 Novartis AG 7.7.1 Company Overview 7.7.2 Financial Analysis 7.7.3 Segmental and Regional Analysis 7.7.4 Research & Development Expense 7.8 AstraZeneca PLC (Alexion Pharmaceuticals, Inc.) 7.8.1 Company Overview 7.8.2 Financial Analysis 7.8.3 Regional Analysis 7.8.4 Research & Development Expenses 7.9 BioMarin Pharmaceutical Inc. 7.9.1 Company Overview 7.9.2 Financial Analysis 7.9.3 Regional Analysis 7.9.4 Research & Development Expenses 7.9.5 Recent strategies and developments: 7.9.5.1 Approvals and Trials: 7.10. Sigilon Therapeutics, Inc. 7.10.1 Company Overview 7.10.2 Financial Analysis 7.10.3 Research & Development Expenses For more information about this report visit Media Contact: Research and Markets Laura Wood, Senior Manager [email protected] For E.S.T Office Hours Call +1-917-300-0470 For U.S./CAN Toll Free Call +1-800-526-8630 For GMT Office Hours Call +353-1-416-8900 U.S. Fax: 646-607-1907 Fax (outside U.S.): +353-1-481-1716 Logo: SOURCE Research and Markets