Latest news with #Fabry
Euractiv
10-07-2025
- Health
- Euractiv
Rare disease research boost for lysosomal scientists backed by Chiesi
Chiesi Global Rare Diseases has recognised three leading scientists through its 'Find For Rare' research grant programme, at a ceremony in Parma. They were honoured for their work supporting early-stage innovation in lysosomal diseases, a field where scientific promise often outpaces available funding. 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. The 2025 awardees are Professor Mitra Tavakoli from the University of Exeter (UK), honoured for developing non-invasive biomarkers to better understand pain in Fabry disease; Dr Margarita Dinamarca from the University of Basel (Switzerland), recognised for her work on targeting the blood–brain barrier in alpha-mannosidosis; and Dr Francesco Bellomo from Ospedale Pediatrico Bambino Gesù – IRCCS (Italy), awarded for investigating the therapeutic potential of a ketogenic diet in cystinosis. Their projects promise earlier diagnosis and new therapeutic avenues for these ultra-rare, multi-systemic disorders. 'Chiesi is working on rare diseases. Around 350 million persons are living with a rare disease worldwide. This is as big as the United States and 95% of them do not have an approved therapy,' said Alessandra Vignoli, Vice-President Rare Diseases at Chiesi. 'And this is what is moving us with urgency to find new treatments for these patients.' Lysosomal diseases: high burden, low visibility Lysosomal diseases are inherited metabolic disorders caused by missing or faulty enzymes. Harmful substances build up inside cells, progressively damaging organs such as the brain, kidneys, heart and bones. While clinical knowledge has improved, effective therapies remain limited and diagnosis is often delayed. 'We understand that only having a therapeutic option sometimes is not enough. So that's why we want to collaborate with this highly scientific award, to also bring to patients new solutions and an advancement in their disease journey,' said Alessandra Vignoli. This broader ambition to go beyond conventional treatment underlines why research funding remains so crucial, particularly in the early stages of scientific discovery. 'This rare disease programme really matters. Because children with rare diseases or adults with rare diseases are a little bit neglected and there is a lot of room for improvement,' said Prof. Dieter Hafner, Steering Committee member at the event. The funding shortfall is precisely what Chiesi aims to tackle. Pan-European call draws 82 proposals The second edition of Chiesi's Find For Rare research-grant scheme attracted 82 applications from 23 countries, reflecting growing interest in early-stage innovation for underserved lysosomal diseases. Applications were accepted from all global regions except the Americas, with proposals required to be submitted in English. Each successful project receives up to €50,000 in funding, with selection criteria based on scientific merit, feasibility, innovation, and patient impact. This year's Find For Rare research grants were awarded to three scientists whose projects aim to address critical gaps in understanding and managing lysosomal diseases. 'The quality of the work that was presented really sets a high bar for the entire rare disease research ecosystem,' said Prof. Joao Goncalves, Steering Committee Member. Tackling Fabry pain through precise phenotyping Professor Mitra Tavakoli, from the University of Exeter (UK), received the award for her work to better understand and measure the pain experienced by people with Fabry disease. Her project explores non-invasive ways to detect nerve damage and trace how pain develops, with the goal of improving diagnosis and care. Steering Committee member Professor João Gonçalves described the project as 'extremely innovative,' highlighting its unique approach to addressing a clinically relevant issue in Fabry disease. He emphasised that the project's focus on exploring a range of novel biomarkers to better understand pain pathways and their pathophysiology targets 'a really important issue at the clinical level.' Overcoming barriers in alpha-mannosidosis Dr Margarita Dinamarca from the University of Basel was awarded for her research into how alpha-mannosidosis affects the brain. Her project focuses on finding ways to deliver treatments more effectively, by helping medicines cross the protective barrier around the brain. The project impressed the jury for its real-world relevance. 'We have neurodegeneration in many, many lysosomal diseases. And also in alpha-mannosidosis. And it is so important to really address this topic. To address the brain and to find ways to treat our patients,' said Professor Lampe. Decoding dietary benefits in cystinosis At Ospedale Pediatrico Bambino Gesù in Rome, Dr Francesco Bellomo is studying whether a ketogenic diet, a high-fat, low-carb diet, could help treat nephropathic cystinosis, a rare genetic kidney disease. Early research in mice showed that the diet could ease symptoms like kidney inflammation and tissue damage. His new project aims to understand how the diet works, so that these findings can eventually benefit patients. The selection committee highlighted the project's potential to translate lab findings into real-world therapies. 'This was very competitive. Thirteen applications, which were all very good. But his application stood out. We were really impressed by the study design, comprehensive proposal, and I think a great potential for success,' said Professor Dieter Hafner. With Chiesi marking its 90-year anniversary, the grants are part of a longer-term commitment to translate early-stage science into tangible benefits for underserved patients with Fabry disease, alpha-mannosidosis and cystinosis. [Edited By Brian Maguire | Euractiv's Advocacy Lab ]
Global News
04-07-2025
- Health
- Global News
Research on gene therapy for rare inherited disease reduces costly, regular treatment
A researcher says an experimental gene therapy for a rare inherited disorder is saving almost as much money for the 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. Story continues below advertisement The gene therapy uses the stem cells taken from a patient'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. Get weekly health news Receive the latest medical news and health information delivered to you every Sunday. Sign up for weekly health newsletter Sign Up By providing your email address, you have read and agree to Global News' Terms and Conditions and Privacy Policy West said in other instances of gene therapy there's been cases of severe side effects from procedures, including the development of various forms of cancer. However, West said that 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 on his leg, which the researchers believe was due to possible side effects of the chemotherapy drug. Story continues below advertisement West said that 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. Story continues below advertisement 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. The senior director of research at Nova Scotia Health said in an email on Friday the project is offering new hope for people with Fabry, as it replaces lifelong treatments with a 'potential curative solution.' 'The impact has the potential to be both deeply personal and economically profound, saving lives, improving quality of life and saving millions in health-care costs. This is a perfect example of the importance of research,' wrote Dr. Ashley Hilchie. This report by The Canadian Press was first published July 4, 2025.
Winnipeg Free Press
04-07-2025
- Health
- Winnipeg Free Press
Research on gene therapy for rare inherited disease reduces costly, regular treatment
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.
Hamilton Spectator
04-07-2025
- Health
- Hamilton Spectator
Research on gene therapy for rare inherited disease reduces costly, regular treatment
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.
Yahoo
03-07-2025
- Business
- Yahoo
H.C. Wainwright Reaffirms Buy Rating on Sangamo After Promising Gene Therapy Data
Sangamo Therapeutics Inc. (NASDAQ:SGMO) ranks among the best CRISPR stocks to buy. Following the release of Sangamo Therapeutics Inc. (NASDAQ:SGMO)'s top-line findings from its Phase 1/2 STAAR study, H.C. Wainwright reaffirmed its Buy rating and $10 price target on the company on June 25. \\ Adults with Fabry disease were treated with isaralgagene civaparvovec (ST-920 or isa-vec), an alpha-galactosidase A gene therapy based on an adeno-associated virus. According to H.C. Wainwright, isa-vec is possibly the best-in-class, one-time gene therapy for Fabry disease. The firm cited improvements in quality of life, stabilization of renal function, termination of enzyme replacement treatment, and long-term alpha-Gal A expression as proof of the therapy's promise. In light of these encouraging outcomes, Sangamo Therapeutics Inc. (NASDAQ:SGMO) is getting ready to submit a biologics license application as early as the first quarter of 2026, which would facilitate a commercial launch in the second half of the same year. One of the leading biotechnology companies in gene editing and gene therapy, Sangamo Therapeutics Inc. (NASDAQ:SGMO) leverages its proprietary zinc finger nuclease technology to develop novel therapies for cancer and genetic illnesses. While we acknowledge the potential of SGMO as an investment, we believe certain AI stocks offer greater upside potential and carry less downside risk. If you're looking for an extremely undervalued AI stock that also stands to benefit significantly from Trump-era tariffs and the onshoring trend, see our free report on the best short-term AI stock. Read More: and Disclosure: None.
