Familial Letterer-Siwe Disease

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

Results from the clinical development programme developed with Protalix BioTherapeutics evaluating pegunigalsidase alfa (PRX-102) an investigational enzyme replacement therapy (ERT), support its potential as a treatment option for adult patients with Fabry disease. SPARKLE registry, Europe's first registry dedicated to collecting real-world evidence in patients with Alpha Mannosidosis, has enrolled more than 50 patients across Europe. Chiesi is sponsoring a satellite symposium, "What matters most? Improving care in LSDs," led by Maurizio Scarpa, M.D., Ph.D., Director of the Regional Reference Centre for Rare Diseases at Udine University Hospital, Italy. FREIBURG, Germany, Sept. 2, 2022 /PRNewswire/ -- Chiesi Global Rare Diseases, a business unit of Chiesi Farmaceutici S.p.A., an international research focused healthcare Group (Chiesi Group), today announced multiple presentations focused on the research and treatment of lysosomal storage diseases (LSDs) at the Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium being held in Freiburg, Germany 30 August – 2 September, 2022. The company's presentations include five abstracts with data from a robust clinical development programme evaluating pegunigalsidase alfa (PRX-102), an investigational enzyme replacement therapy (ERT) for the treatment of Fabry disease. The company is also presenting two abstracts dedicated to Alpha Mannosidosis, including updates from Europe's first patient registry for this ultra-rare disease. Finally, the company is sponsoring a satellite symposium, " What matters most? Improving care in LSDs," that is being led by Maurizio Scarpa, M.D., Ph.D., Director of the Regional Reference Centre for Rare Diseases at Udine University Hospital, Italy. "The multidisciplinary approach and the doctor-patient dialogue play a crucial role in providing the most appropriate and personalised therapeutic solutions in LSDs," said Prof. Scarpa. "Patients with lysosomal storage diseases, even within the same diagnosis, are very heterogeneous and can live with completely different conditions from each other. This is why fostering constant communication between patient and doctor is one of the best ways to understand which symptoms are most impactful and burdensome for patients, or to implement a more holistic approach that includes the management of associated conditions, such as psychological well-being and impaired mobility. Only in this way we will be able to work with ever greater specificity in order to achieve more incisive results in terms of improving the quality of life and well-being of people with lysosomal storage diseases." Today, some 350 million people are living with a rare disease. There are more than 7,000 known rare diseases 1, but only five percent currently have an approved treatment or an experimental therapy in development. Chiesi Global Rare Diseases was established in 2020 to bring innovative solutions to these patients and support to their caregivers. Drawing maximum synergy from the resources and capabilities of the Chiesi Group and its global network, the business unit develops innovative drugs with the patients' needs first. The company's symposium at SSIEM 2022 is dedicated to the key role of the patient as a driving force for a personalised and multidisciplinary diagnostic, therapeutic and social approach in the treatment of lysosomal storage diseases. During this symposium, leading international opinion leaders including Dr. Uma Ramaswami, a paediatrician specialised in hereditary metabolic diseases at the Royal Free Hospital in London (UK), Dr. Nathalie Guffon, Head of Reference Centre for Inherited Metabolic Diseases at the Femme Mère Enfant Hospital in Lyon (France), and Dr. Patricio Ricardo da Terra Aguiar, a specialist in hereditary metabolic diseases at Lisbon North Hospital Center (Portugal), will review the importance of patient centricity and listening, how to choose the most appropriate therapy according to specific needs, and how to assess the effects of treatment and adherence to therapy. The event is focused on Fabry disease and Alpha Mannosidosis, the latter being an ultra-rare disease with still limited knowledge available in the scientific literature so far. Chiesi Global Rare Diseases is working together with the scientific community to increase awareness and knowledge of this ultra-rare condition. "We are constantly working to promote research and development of new products for rare and ultra-rare diseases because we firmly believe that by helping patients and their families, we can play our part in generating a positive impact on society as a whole," said Giacomo Chiesi, Head of Chiesi Global Rare Diseases. "Being able to promote discussion within the scientific community on the importance of the patient centricity first and foremost as a person, makes us proud to be here today. In our DNA we feel a strong desire to be able to bring answers to those needs that are still unmet, as in the case of Fabry disease, and at the same time to cooperate with physician and patient advocacy groups in building together the story of ultra-rare diseases, such as Alpha Mannosidosis, which is still largely unknown." "Moreover, as a B-Corp certified company, Chiesi is strongly committed to making a tangible contribution to the United Nations Sustainable Development Goals (SDGs), and more specifically in the field of rare diseases, to the goal of achieving health for all at all ages," added Giacomo Chiesi. "Chiesi Global Rare Diseases wants to play its part in achieving this goal by committing on a daily basis to providing patients with safe and effective solutions that improve their quality of life and by making these treatments accessible to those in difficult circumstances or who cannot easily access treatment." Data presented at SSIEM 2022: Fabry Disease Chiesi is presenting results from the Phase III clinical development programme sponsored by Protalix Ltd., Chiesi's collaboration partner, evaluating PRX-102, including data from the BRIGHT and BALANCE studies. The results of the Phase III BRIGHT2 study indicate that treatment with 2 mg/kg of PRX-102 administered by intravenous infusion every four weeks for 52 weeks was well tolerated and that Fabry disease remained stable throughout the duration of the study. The pivotal Phase III BALANCE3 study, which is an active-control, randomised, double-blind, 24-month study in adult Fabry disease patients with renal function impairment, evaluated the safety and efficacy of 1 mg/kg of PRX-102 administered every two weeks versus agalsidase beta at the same dosing schedule. The study enrolled 78 patients previously treated with agalsidase beta for at least one year and met the predefined criteria of non-inferiority for the primary endpoint of renal function. Alpha-Mannosidosis Velmanase Alfa, a drug authorised by the EMA in 2018, is the first drug therapy for the treatment of Alpha Mannosidosis, an ultra-rare and severely disabling genetic disease. It is an ERT that aims to replace or supplement natural alpha-mannosidase. Chiesi and the scientific community are working together to build a diagnostic and therapeutic pathway that meets the needs of patients: The company is presenting for the first time at SSIEM 2022 preliminary data from the SPARKLE registry, the first European registry dedicated to collecting real-world evidence in patients with Alpha Mannosidosis. The registry was developed to gather insights into the natural history of the disease regardless of treatment. The registry has been active since December 2019 and has so far enrolled more than 50 patients in different European countries. The goal is to reach 100 patients in order to be able to build more knowledge on the natural history of the disease, as well as on the impact of long-term enzyme replacement therapy with velmanase alfa. Furthermore, the company is presenting long-term efficacy data of velmanase alfa for the treatment of alpha-mannosidosis, from the French Etoile Alpha registry. This is the longest clinical experience to date, with data from patients who received velmanase alfa treatment up to a maximum of 9.5 years. The study shows not only significant improvements in biochemical parameters and lung function but also improvements in motor function. About Fabry Disease Fabry disease is an X-linked inherited disease that results from deficient activity of the lysosomal α‑Galactosidase‑A enzyme resulting in progressive accumulation of abnormal deposits of a fatty substance called globotriaosylceramide (Gb3) in blood vessel walls throughout a person's body. Fabry disease occurs in one person per 40,000 to 60,000. Fabry patients inherit a deficiency of the α‑Galactosidase‑A enzyme, which is normally responsible for the breakdown of Gb3. The abnormal storage of Gb3 increases with time and, accordingly, Gb3 accumulates, primarily in the blood and in the blood vessel walls. The ultimate consequences of Gb3 deposition range from episodes of pain and impaired peripheral sensation to end-organ failure – particularly of the kidneys, but also of the heart and the cerebrovascular system. About Alpha-Mannosidosis Alpha-mannosidosis is a lysosomal storage disease that belongs more specifically to the subgroup of oligosaccharidoses. It is a hereditary disease, with autosomal recessive transmission, due to a mutation in the gene MAN2B1. This specific genetic defect causes deficiency of the lysosomal alpha-mannosidase enzyme, resulting in harmful and progressive build-up of oligosaccharides (sugars) in cells throughout the body. The manifestations of alpha-mannosidosis vary from patient to patient, but the disease is essentially characterised by immunodeficiency, skeletal abnormalities, facial dysmorphisms, sensorineural deafness and gradual deficits in mental and speech functions. Related motor disorders include muscle weakness, osteo-articular abnormalities and ataxia. Additional symptoms include hydrocephalus, hepatosplenomegaly and eye, kidney and heart problems. Alpha-Mannosidosis affects about one in every 500,000 live births. About Pegunigalsidase Alfa (PRX-102) Pegunigalsidase alfa (PRX-102) is an investigational, plant cell culture-expressed, and chemically modified stabilized version of the recombinant alpha-galactosidase A enzyme. Protein sub-units are covalently bound via chemical cross-linking using short PEG moieties, resulting in a molecule with unique pharmacokinetic parameters. In clinical studies, PRX-102 has been observed to have a circulatory half-life of approximately 80 hours. Protalix Ltd., Chiesi's collaboration partner, designed PRX-102 to potentially address the continued unmet clinical need in Fabry patients. About Velmanase Alfa The active ingredient velmanase alfa is part of a group of drugs called enzyme replacement therapies and is the first drug therapy for the treatment of alpha-mannosidosis, an ultra-rare and severely disabling genetic disease caused by the absence or malfunction of alpha-mannosidase, an enzyme involved in the cellular breakdown of glycoproteins. Velmanase alfa is a recombinant form of the human alpha-mannosidase enzyme. Velmanase alfa is an investigational drug candidate in the United States. The effectiveness and safety of Velmanase Alfa have not been reviewed or approved by the FDA. About Chiesi Global Rare Diseases Chiesi Global Rare Diseases is a business unit of the Chiesi Group established in February 2020 and focused on research and development of treatments for rare and ultra-rare disorders. The Global Rare Diseases unit works in collaboration with Chiesi Group to harness the full resources and capabilities of our global network to bring innovative new treatment options to people living with rare diseases, many of whom have limited or no treatments available. The unit is also a dedicated partner with global leaders in patient advocacy, research and patient care. For more information visit . About Chiesi Group Chiesi is an international, research-focused biopharmaceuticals group that develops and markets innovative therapeutic solutions in respiratory health, rare diseases, and specialty care. The company's mission is to improve people's quality of life and act responsibly towards both the community and the environment. By changing its legal status to a Benefit Corporation in Italy, the US, and France, Chiesi's commitment to create shared value for society as a whole is legally binding and central to company-wide decision-making. Since 2019, Chiesi is the world's largest biopharmaceutical group to be certified B Corp, meaning that its sustainability efforts are measured and assessed by the most ambitious global standards. The company aims at becoming net-zero by 2035. With over 85 years of experience, Chiesi is headquartered in Parma (Italy), operates in 30 countries, and counts more than 6,000 employees. The Group's research and development centre in Parma works alongside 6 other important R&D hubs in France, the US, Canada, China, the UK, and Sweden. For further information please visit 1 Osservatoriomalattierare.it 2 3 Chiesi Global Rare Diseases Media Contact Jenna Urban Berry & Company Public Relations +1-212-253-8881 [email protected] SOURCE Chiesi Global Rare Diseases