Latest news with #FabryDisease
CBC
04-07-2025
- Health
- CBC
Research on gene therapy for rare inherited disease reduces costly, regular treatment
A researcher says the experimental use of gene therapy for a rare inherited disorder is saving almost as much money for treatment of five patients as the study itself costs. The early-stage study published last year found that three of the men being treated for Fabry disease were able to stop using enzyme-replacement therapy — which costs about $300,000 annually — once they started on the "one-time" gene therapy. Dr. Michael West, a co-author and kidney specialist in Halifax, says the overall savings have been $3.7 million, against research costs to date of about $4 million — which was largely provided by the federal Canadian Institutes of Health Research. Fabry disease is a rare disorder that leaves the body unable to produce the correct version of an enzyme that breaks down fatty materials — leading to major damage to vital organs and shortened lifespans. Some people suffer various symptoms including pain in their hands and feet, intestinal problems and chronic fatigue. Stem cells The gene therapy uses the stem cells taken from the men's bone marrow to deliver a replacement copy of the faulty gene. The research team wrote in the Journal of Clinical and Translational Medicine last year that one of the men with advanced kidney disease saw his condition stabilize, and the researchers also found that none of the men had major events such as heart attacks or kidney failure caused by Fabry over the last five years, West said. "These patients are still producing more of the needed enzymes than they did prior to the gene therapy," said the 72-year-old physician, who works at the Queen Elizabeth II Health Sciences Centre in Halifax and is a professor at Dalhousie University. West said in other instances of gene therapy there's been instances of severe side effects from procedures, including the development of various forms of cancer. However, West said since the men received their gene therapy for Fabry between 2016 and 2018, there has been just two instances of side effects, neither of which were a direct result of the therapy itself. Rather, in one case, a chemotherapy drug used to "make space" in bone marrow for grafting in modified cells caused a man's white blood cell count to fall. He was treated with antibiotics for a potential infection and recovered, West said. In a second case, a man developed a large bruise in his leg, which the researchers believe was due to possible side effects of the chemotherapy drug. Worth the effort West said while the research needs to go to larger-scale studies before it becomes conventional treatment, he believes it's worth pursuing due in part to the costs and "the burden to patients" of the existing therapy. The specialist said that conventional enzyme-replacement therapy has to occur every two weeks, requiring approximately two hours for each treatment. Out of the roughly 540 people with Fabry in Canada, the researcher says about 100 are in Nova Scotia. It's believed the first person with the genetic mutation can be traced back to a French woman who immigrated to Lunenburg, N.S., in the colonial era, and her descendants carried the faulty gene through 18 generations that followed. "Currently, there's some cases in Ontario, there's some in British Columbia, there's some in the U.K., some cases in Florida, but they all originated from here and they share the same mutation," West said. Cost unknown West said the ultimate cost of gene therapy per patient has yet to be determined, as it first would have to be approved by the major regulatory agencies as an accepted treatment. But he said one option for inherited genetic diseases, where there is a relatively small group of patients, would be for government research agencies to develop and own the treatment themselves, and then earn fees to provide the treatments to other national health systems. West said he realizes the sample size is small, and the goal is now to create a similar study with 25 to 30 patients, including women, over a two- to three-year period.
CTV News
04-07-2025
- Health
- CTV News
Research on gene therapy for rare inherited disease reduces costly, regular treatment
Dr. Michael West, a co-author and Dalhousie University researcher, is shown in this handout image. THE CANADIAN PRESS/Handout HALIFAX — A researcher says the experimental use of gene therapy for a rare inherited disorder is saving almost as much money for treatment of five patients as the study itself costs. The early-stage study published last year found that three of the men being treated for Fabry disease were able to stop using enzyme-replacement therapy — which costs about $300,000 annually — once they started on the 'one-time' gene therapy. Dr. Michael West, a co-author and kidney specialist in Halifax, says the overall savings have been $3.7 million, against research costs to date of about $4 million — which was largely provided by the federal Canadian Institutes of Health Research. Fabry disease is a rare disorder that leaves the body unable to produce the correct version of an enzyme that breaks down fatty materials — leading to major damage to vital organs and shortened lifespans. Some people suffer various symptoms including pain in their hands and feet, intestinal problems and chronic fatigue. The gene therapy uses the stem cells taken from the men's bone marrow to deliver a replacement copy of the faulty gene. The research team wrote in the Journal of Clinical and Translational Medicine last year that one of the men with advanced kidney disease saw his condition stabilize, and the researchers also found that none of the men had major events such as heart attacks or kidney failure caused by Fabry over the last five years, West said. 'These patients are still producing more of the needed enzymes than they did prior to the gene therapy,' said the 72-year-old physician, who works at the Queen Elizabeth II Health Sciences Centre in Halifax and is a professor at Dalhousie University. West said in other instances of gene therapy there's been instances of severe side effects from procedures, including the development of various forms of cancer. However, West said since the men received their gene therapy for Fabry between 2016 and 2018, there has been just two instances of side effects, neither of which were a direct result of the therapy itself. Rather, in one case, a chemotherapy drug used to 'make space' in bone marrow for grafting in modified cells caused a man's white blood cell count to fall. He was treated with antibiotics for a potential infection and recovered, West said. In a second case, a man developed a large bruise in his leg, which the researchers believe was due to possible side effects of the chemotherapy drug. West said while the research needs to go to larger-scale studies before it becomes conventional treatment, he believes it's worth pursuing due in part to the costs and 'the burden to patients' of the existing therapy. The specialist said that conventional enzyme-replacement therapy has to occur every two weeks, requiring approximately two hours for each treatment. Out of the roughly 540 people with Fabry in Canada, the researcher says about 100 are in Nova Scotia. It's believed the first person with the genetic mutation can be traced back to a French woman who immigrated to Lunenburg, N.S., in the colonial era, and her descendants carried the faulty gene through 18 generations that followed. 'Currently, there's some cases in Ontario, there's some in British Columbia, there's some in the U.K., some cases in Florida, but they all originated from here and they share the same mutation,' West said. West said the ultimate cost of gene therapy per patient has yet to be determined, as it first would have to be approved by the major regulatory agencies as an accepted treatment. But he said one option for inherited genetic diseases, where there is a relatively small group of patients, would be for government research agencies to develop and own the treatment themselves, and then earn fees to provide the treatments to other national health systems. West said he realizes the sample size is small, and the goal is now to create a similar study with 25 to 30 patients, including women, over a two- to three-year period. This report by The Canadian Press was first published July 4, 2025. By Michael Tutton
Business Wire
19-06-2025
- Health
- Business Wire
Chiesi Global Rare Diseases Awards Research Grants to Advance Innovation in Lysosomal Diseases
PARMA, Italy--(BUSINESS WIRE)--Chiesi Global Rare Diseases, a business unit of the Chiesi Group established to deliver innovative solutions for people living with rare diseases, today announced the recipients of its "Find For Rare" research grant program. The independently assessed, expert-led research grant initiative aims to improve patient care and management by recognising innovative research in three lysosomal diseases: Fabry disease, alpha-mannosidosis, and cystinosis. Chiesi Global Rare Diseases Awards Research Grants to Advance Innovation in Lysosomal Diseases Share The selected projects demonstrated significant potential to address unmet needs within these rare communities. The recipients include: Fabry disease: Mitra Tavakoli, University of Exeter, Exeter, UK, for her project "FAB-PAIN: Precise phenotyping of neuropathy using a range of novel biomarkers in Fabry Disease' Project overview: This project aims to explore a range of novel biomarkers to better understand the pain pathways and its pathophysiology in Fabry disease. The findings may lead to the development of a range of new neuropathic biomarkers, advancing the understanding of disease mechanisms and facilitating the creation of diagnostic tools and therapeutic interventions. Alpha-mannosidosis: Margarita Dinamarca, University of Basel, Basel, Switzerland, for her project "Investigating brain endothelial dysfunction in alpha-mannosidosis" Project Overview: This research is significant for its dual contributions: unraveling the mechanisms by which alpha-mannosidosis disrupts endothelial cell function and pioneering a targeted therapeutic strategy using nanocarriers Cystinosis: Francesco Bellomo, Ospedale Pediatrico Bambino Gesù – IRCCS, Rome, Italy, for his project "Study of molecular mechanisms underlying the effects of ketogenic diet in cystinosis" Project Overview: This research project investigates the potential of a ketogenic diet to treat nephropathic cystinosis, a rare genetic disorder leading to kidney disease. By studying the diet's effects in murine models, significant reductions in symptoms such as Fanconi syndrome, inflammation, and fibrosis were observed. The project aims to develop an in vitro system to further explore the molecular mechanisms behind these benefits, potentially enabling the discovery of new therapeutic options. Applications opened for submission on August 08, 2024, and a total of 82 applications from 23 countries were received. All submitted applications were evaluated by a steering committee of 10 independent leading experts in the field of Lysosomal Diseases, who received an honorarium for participating and reviewing the research projects. Details regarding the application criteria can be located here. "Fabry disease, alpha-mannosidosis, and cystinosis are rare and ultra-rare lysosomal diseases causing severe, progressive, lifelong challenges, often complicated by diagnostic delays due to their complex and gradual progression," said Enrico Piccinini, Senior Vice President, EU and International, Rare Diseases at Chiesi Group. "Further research is vital for better diagnostics, new management options, and improved patient outcomes. The selection of these three projects through 'Find For Rare' highlights our deep commitment to advancing Lysosomal Diseases care by fostering crucial innovation to meet the evolving needs of patients and their families." Chiesi hosted a ceremony on June 18, 2025, at Chiesi's headquarters in Parma, Italy, to formally recognise the grant recipients and their innovative research. 'The quality and scientific rigor of the proposals submitted to Find For Rare this year were impressive. Each selected project stood out for its potential to address real, day-to-day challenges faced by patients and caregivers affected by lysosomal diseases,' said Prof. Christina Lampe, Chair of the Find For Rare Steering Committee. 'By supporting research that is both innovative and patient-focused, this program helps accelerate the translation of science into meaningful impact for rare disease communities.' About Find For Rare The Find For Rare Research Grant Initiative has been designed to support original research projects that advance knowledge in the fields of Fabry disease, alpha-mannosidosis, and cystinosis. The categories of research eligible for funding are projects aimed at improving understanding of the factors affecting diseases, from pathogenesis to progression, and studies of patient tailored clinical management. Research grants were provided to organisations operating in the health or scientific research sector. Proposals were welcome from all global regions other than the Americas, with application documents required to be in English. About Lysosomal Diseases Lysosomal Diseases are inborn errors of metabolism that are characterised by an abnormal build-up of substances in the body's cells as a result of enzyme deficiencies. 1 The build-up of these substances can affect different parts of the body, including the skeleton, central nervous system (brain), lungs, heart, and eyes. Whilst there has been progress in clinical knowledge, more research in Lysosomal Diseases can be beneficial. 1 About Chiesi Group Chiesi is a research-oriented international biopharmaceutical 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 adopting the legal form of Benefit Corporation in Italy, the US, France and Colombia, Chiesi's commitment to creating shared value for society as a whole is legally binding and central to company-wide decision-making. As a certified B Corp since 2019, Chiesi is part of a global community of businesses that meet high standards of social and environmental impact. The company aims to reach Net-Zero greenhouse gases (GHG) emissions by 2035. With 90 years of experience, Chiesi is headquartered in Parma (Italy), with 31 affiliates worldwide, and counts more than 7,500 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. About Chiesi Global Rare Diseases Chiesi Global Rare Diseases is a business unit of the Chiesi Group established to deliver innovative therapies and solutions for people living with rare diseases. As a family business, Chiesi Group strives to create a world where it is common to have a therapy for all diseases and acts as a force for good, for society and the planet. The goal of the Global Rare Diseases unit is to ensure equal access so as many people as possible can experience their most fulfilling life. The unit collaborates with the rare disease community around the globe to bring voice to underserved people in the health care system. UK-CHI-2500657 June 2025
Yahoo
13-05-2025
- Business
- Yahoo
Sangamo Therapeutics Inc (SGMO) Q1 2025 Earnings Call Highlights: Strategic Partnerships and ...
Release Date: May 12, 2025 For the complete transcript of the earnings call, please refer to the full earnings call transcript. Sangamo Therapeutics Inc (NASDAQ:SGMO) signed a significant license agreement with Eli Lilly, potentially worth up to $1.4 billion in milestone payments. The company is advancing its neurology pipeline, with preparations for a Phase 1/2 study of ST 503 for chronic neuropathic pain. Sangamo has achieved important clinical and regulatory milestones for its Fabry disease program, with a pivotal data readout expected soon. The company has reduced non-GAAP operating expenses by 50% year-on-year, demonstrating financial discipline. Sangamo is actively engaging in promising business development discussions, indicating ongoing interest in its technology platforms. Sangamo Therapeutics Inc (NASDAQ:SGMO) requires additional capital to fund its operations and achieve proof of concept in its programs. The company is reliant on securing a commercial partnership for its Fabry disease program to ensure long-term funding. There is uncertainty regarding the statistical analysis plan for the EGFR data, which is crucial for regulatory submissions. The company faces challenges in the broader macroeconomic landscape, including potential impacts from drug pricing discussions. Sangamo's immediate cash runway is limited, necessitating a recent equity offering to extend its financial runway. Warning! GuruFocus has detected 7 Warning Signs with SGMO. Q: Could you provide more color on what exactly you plan to show in the top line EGFR data? Will you show just the EGFR slope or other quality of life endpoints? Also, will there be an NHS analysis to contextualize the improvements in EGFR? A: We will share the updated mean EGFR slope in the top line data and comment on additional information at a later date. We have agreed with the FDA on our statistical analysis plan, but we are not commenting on specifics at this time. Q: How many potential partners are you currently in conversations with regarding a potential Fabry partnership, and what can you tell us about those discussions? A: We are in discussions with multiple potential partners. The recent Type B meeting with the FDA was helpful, providing a clear path for CMC, which is crucial for any gene therapy BLA and approval. Q: Given the current administration's concern around drug pricing, how do you think that will impact gene therapy uptake and pricing in the US and abroad? A: There is a long way to go in discussions around drug pricing. The pharmaceutical industry is important in America, and BIO will be having detailed conversations with the administration to find a productive way forward. Q: Do you still plan to file based on 52-week EGFR data for Fabry, and is static versus baseline required for EGFR? A: Yes, we are pursuing the agreement with the FDA to use 52-week EGFR data for the entire patient population in the phase one study. We have collected all the data and expect to share the topline data at the end of the quarter, which will be the basis for our BLA. Q: Are the patients who were on ERT still off ERT, or were there any relapses? A: Yes, all 18 patients who started on ERT out of our 32 patients are still off ERT. For the complete transcript of the earnings call, please refer to the full earnings call transcript. This article first appeared on GuruFocus. Error in retrieving data Sign in to access your portfolio Error in retrieving data Error in retrieving data Error in retrieving data Error in retrieving data
