Latest news with #CMT
Euronews
2 days ago
- Health
- Euronews
Data-sharing gives rare disease patients another chance at diagnosis
Arne Cavents was four years old when he was misdiagnosed. Growing up in a small city in Belgium, Cavents knew he was different from other children. He'd had surgery to correct his inward-turning legs, and had difficulty tying his shoes and riding a bicycle. Due to his symptoms, he was believed to have Charcot-Marie-Tooth disease (CMT), a progressive hereditary condition that causes muscle weakness in the feet, ankles, legs, and hands. His mother, sister, and grandmother suffered the same issues. It wasn't until 2017, when Cavents and his wife started thinking about having children, that he decided to get genetic testing to confirm the diagnosis. But five years and three hospital visits later, the tests had only ruled out CMT – until he received a call in 2022 from a doctor in Antwerp who had detected an unusual mutation in one of his genes. Cavents was eventually diagnosed with distal myopathy with early childhood onset, a rare condition that, like CMT, causes weakness in the feet. His doctor estimates it affects one in one million people. 'Finally, we know what is going on,' Cavents, a 32-year-old health insurance agent, told Euronews Health. He said the diagnosis was 'a great relief' after years of 'uncertainty, sadness, hope, [and] disappointment'. Cavents is one of hundreds of patients with previously unknown genetic conditions who got answers as a result of a European programme to give them a second chance at diagnosis. By definition, these conditions affect fewer than five people per 10,000, and about 80 per cent have genetic origins. On average, patients wait 4.7 years before they are diagnosed, with younger people facing longer delays that can make it harder to find the right treatment, according to a 2022 survey of more than 10,000 rare disease patients across Europe. Diagnosis 'is really the first step,' Roseline Favresse, head of research policy and initiatives at the advocacy group European Organisation for Rare Diseases, told Euronews Health. As part of a study published in the journal Nature Medicine this year, researchers from 37 medical centres across Europe pooled their data and reexamined the records of about 6,500 rare disease patients who did not have a genetic confirmation of their diagnosis, as well as 3,200 relatives. This data-sharing partnership, known as Solve-RD, allowed researchers to analyse more recent studies on gene mutations, use cutting-edge technology to identify potential variants, and consult experts in other countries – a key component because these conditions are so rare that many diagnosticians lack expertise in any one particular disease. 'By having novel software tools to mine the data, with existing data you can make a new genetic diagnosis,' said Richarda de Voer, an associate professor of cancer genomics at Radboud University Medical Centre in the Netherlands, who worked with Solve-RD to diagnose rare hereditary cancers. As part of the Solve-RD programme, more than 500 people were diagnosed with rare neurological disorders, severe intellectual disabilities, muscle diseases, hereditary gastrointestinal cancer, and other conditions. For about 15 per cent of them, diagnosis led directly to new treatment options or other medical support. For the rest, it offered clarity and hope that new treatments could become available in the future. 'These disorders are rare, they are genetic, and in the past, we would say they are not curable,' Dr Jonathan De Winter, a rare disease researcher at the University of Antwerp and Cavents' doctor, told Euronews Health. 'But that's really changing in the past years,' he added. For Cavents, his diagnosis opened the door to fatherhood after years spent worrying he could pass his condition on to his children. He and his wife will now have the option to monitor for the genetic variant through prenatal diagnostics or during in vitro fertilisation (IVF), in which embryos would be tested for the mutation before being implanted into his wife's uterus. Despite the lack of treatment options for Cavents at present, his diagnosis has been so life-changing that he and his wife sometimes joke about naming their future child after De Winter. 'It's been a long road. In the end, it is a positive outcome for me,' he said. The Solve-RD programme ended in 2024, but its early findings are central to a new international project that aims to improve prevention, diagnosis, and treatment for Europe's 30 million rare disease patients. Through the new project, known as the European Rare Disease Research Alliance (ERDERA), researchers are working with bigger genetic datasets and incorporating more advanced genome sequencing technology that should help them detect complex mutations. 'We use the lessons learned from Solve-RD for ERDERA,' Alexander Hoischen, a geneticist and professor at Radboud University who co-led the Solve-RD project, told Euronews Health. 'We are now already more efficient in making diagnoses,' he added. As a result, clinicians should be able to share some potential new insights with patients within the next year, according to Holm Graessner, a rare disease researcher in Germany who worked with Solve-RD and now co-leads ERDERA's clinical research network. 'We now have the chance to… scale it up, to further develop it, and to include further countries,' Graessner told Euronews Health. As researchers take those steps, patient advocates want the programme to move beyond academic settings to make genetic reanalysis available in all clinics that treat rare disease patients. 'What we hope to see is a significant increase in the percentage of cases solved after reanalysis,' Favresse said, as well as 'equal opportunities for everyone to benefit from a second chance at being diagnosed'. A new artificial intelligence (AI) tool could boost health outcomes for some men with prostate cancer by identifying whether they would benefit from a promising treatment. The drug abiraterone works by blocking testosterone production throughout the body, including in the tumour. It's been shown to slash the risk of death by nearly half for about one in four men with prostate cancer – but it can be costly and have side effects, making health authorities wary of prescribing it too readily. That means getting abiraterone to the right patients at the right time could help improve their prognosis, while also avoiding over-treating patients who might not benefit from the drug, according to the study led by UK institutions. 'This research shows that we can pick out the people who will respond best to abiraterone, and those who will do well from standard treatment alone – hormone therapy and radiotherapy,' Nick James, the study's co-lead and a professor of prostate and bladder cancer research at the UK's Institute of Cancer Research, said in a statement. The findings were presented this week at the American Society of Clinical Oncology's annual meeting in Chicago. Scientists used AI to study images of tumour samples and identify biomarkers that could have otherwise gone undetected, and then applied the test to biopsy images from more than 1,000 men who had participated in another clinical trial on prostate cancer treatments. Among patients with biomarker-positive tumours, abiraterone slashed the risk of death from 17 per cent to 9 per cent within five years. For those with biomarker-negative tumours, abiraterone did not significantly reduce their mortality risks – meaning these patients should receive standard treatment, the study concluded. Researchers noted that abiraterone can cause side effects such as high blood pressure, liver problems, and diabetes, meaning the AI tool could help direct prostate cancer patients to the best treatment for them. 'This study shows, in a very large cohort of patients, that novel algorithms can be used to extract information from routinely available pathology slides to tailor these treatments to specific patients and minimise over treatment whilst maximising the chance of cure,' Gert Attard, the study's co-lead and a professor of medical oncology at the University College London Cancer Institute, said in a statement. In the United Kingdom, abiraterone has been approved in Scotland and Wales to treat newly-diagnosed, high-risk prostate cancer that has not yet spread, but in England, it is only available through the National Health Service (NHS) for men whose cancer has metastasised. The researchers called on the NHS to reassess this decision, saying 8,400 men per year could potentially benefit from the drug. 'Access to this life-extending drug is currently a postcode lottery – with those living in Scotland and Wales able to receive the treatment for free,' James said. Prostate cancer is one of the most common forms of cancer for men, with nearly 336,000 new cases diagnosed every year in the European Union.
Yahoo
5 days ago
- Entertainment
- Yahoo
Who won AMAs? Who won Album of the Year and Artist of the Year? 2025 winners list
The 51st annual American Music Awards took over Las Vegas on Monday, May 26. The award show, which recognizes outstanding achievements in American music, featured rising stars and veteran performers competing for the evening's top honors, including the Album of the Year award and the coveted Artist of the Year title. The top nominees at the 2025 AMAs included Kendrick Lamar, Post Malone, Billie Eilish, Chappell Roan, Shaboozey and Taylor Swift. But who took home the year's top prizes? Did Taylor Swift win an AMA trophy? Here's a look. Billie Eilish was this year's big winner at the American Music Awards, nabbing all seven of the awards she was nominated for, including Album of the Year. Eilish won Artist of the Year at the 2025 American Music Awards. The "Birds of a Feather" singer also took home Song of the Year, Favorite Touring Artist, Favorite Pop Album and Favorite Pop Song. Taylor Swift did not win any of her six nominations at the 2025 AMAs, despite being nominated for some of the show's biggest awards, including Album of the Year and Artist of the Year. Click here to see the full list of AMA 2025 winners. Singer, songwriter, actress and dancer Jennifer Lopez was the host of the 2025 AMAs. She also performed the opening number of the show. A re-run of the 2025 AMAs will air on MTV on Tuesday, May 27 at 10 p.m. ET. Additional re-runs will also broadcast on CMT on Wednesday, May 28 at 9 p.m. ET and on BET at 10 p.m. ET. Contributing: Ashley Ferrer, USA TODAY Network. This article originally appeared on Cincinnati Enquirer: Did Taylor Swift win any AMAs? A look at the 2025 winners list
Yahoo
5 days ago
- Business
- Yahoo
Augustine Therapeutics announces first patient dosed in Phase I clinical trial evaluating lead candidate AGT-100216 for the treatment of Charcot-Marie-Tooth disease
AGT-100216 is the first HDAC6 inhibitor from Augustine's pipeline to enter clinical trials LEUVEN, Belgium – 27 May 2025– Augustine Therapeutics NV ('Augustine' or 'the Company'), a biotechnology company focused on developing new therapies for neuromuscular, neurodegenerative and cardio-metabolic diseases through the inhibition of the cytosolic Histone DeACetylase 6 (HDAC6) enzyme, today announces it has dosed the first patient in its Phase I clinical trial evaluating lead candidate AGT-100216, the first peripherally-restricted, selective HDAC6 inhibitor (HDAC6i) for the treatment of Charcot-Marie-Tooth disease (CMT). The Phase I trial is a randomized, double-blind, placebo-controlled, first-in-human trial, designed to evaluate the safety, tolerability, pharmacokinetics and exploratory pharmacodynamics of oral AGT-100216 in healthy adult volunteers. The trial is a combined two-part study evaluating single ascending and multiple ascending doses of AGT-100216. Gerhard Koenig, PhD, CEO of Augustine, said: 'The initiation of our first clinical trial is a major milestone for Augustine. Decades of research have validated the therapeutic potential of HDAC6 as a target but efforts to drug it to date have been sub-optimal. Augustine is developing a new generation of HDAC6 inhibitors, like AGT-100216, with a unique mechanism of action shown to be selective, safe and effective in pre-clinical trials. Having recently raised EUR 78 million / USD 85 million in an oversubscribed Series A financing round, and with a strengthened management team, the Company is entering a new stage of growth. We are well positioned to progress AGT-100216 through clinical development for CMT and to also advance our pipeline of next-generation HDAC6 inhibitors in significant cardio-metabolic and neurodegenerative diseases.' Media Contacts: Augustine TherapeuticsGerhard Koenig, CEOE-mail: info@ ICR Healthcare Amber Fennell, Ashley TappE-mail: augustinetx@ About Augustine Therapeutics Augustine Therapeutics is a biotechnology company focused on the treatment of neuromuscular, neurodegenerative and cardio-metabolic diseases through its next-generation approach to selectively inhibit HDAC6. Augustine's HDAC6 inhibitors have been purposefully designed to selectively inhibit HDAC6 while preserving its beneficial non-catalytic functions. Augustine's lead program, AGT-100216, is the first selective HDAC6 inhibitor for long-term treatment of Charcot-Marie-Tooth (CMT) disease. With its novel non-hydroxamate, non-hydrazide producing chemotype, Augustine's HDAC6 approach is selective, avoids the limitations of other chemotypes, and built for chronic diseases. With this novel approach, the Company will also be targeting diseases beyond CMT, including neurodegenerative and cardio-metabolic diseases. Augustine Therapeutics was founded on the ground-breaking research of Prof. Ludo Van Den Bosch from the VIB-KU Leuven in Belgium. The Company raised an oversubscribed EUR 78 million / USD 85 million Series A financing round in March 2025, led by Novo Holdings and Jeito Capital and supported by Asabys Partners, Eli Lilly and Company, AdBio partners, V-Bio Ventures, PMV, VIB, Gemma Frisius Fund, the US-based Charcot-Marie-Tooth (CMT) Research Foundation and Newton Biocapital. For more information visit About Charcot-Marie-Tooth (CMT) diseaseCharcot-Marie-Tooth (CMT) disease is a genetically heterogeneous group of hereditary peripheral neuropathies characterized by progressive distal nerve damage, primarily affecting the feet, legs, hands, and arms. The disorder damages peripheral nerves, causing muscle weakness, loss of sensation and other disabling symptoms. CMT is the most common inherited neuromuscular disorder with an estimated frequency of 1 in 2,500 people worldwide and there are currently no approved cures while retrieving data Sign in to access your portfolio Error while retrieving data Error while retrieving data Error while retrieving data Error while retrieving data
Yahoo
5 days ago
- Business
- Yahoo
Augustine Therapeutics announces first patient dosed in Phase I clinical trial evaluating lead candidate AGT-100216 for the treatment of Charcot-Marie-Tooth disease
AGT-100216 is the first HDAC6 inhibitor from Augustine's pipeline to enter clinical trials LEUVEN, Belgium – 27 May 2025– Augustine Therapeutics NV ('Augustine' or 'the Company'), a biotechnology company focused on developing new therapies for neuromuscular, neurodegenerative and cardio-metabolic diseases through the inhibition of the cytosolic Histone DeACetylase 6 (HDAC6) enzyme, today announces it has dosed the first patient in its Phase I clinical trial evaluating lead candidate AGT-100216, the first peripherally-restricted, selective HDAC6 inhibitor (HDAC6i) for the treatment of Charcot-Marie-Tooth disease (CMT). The Phase I trial is a randomized, double-blind, placebo-controlled, first-in-human trial, designed to evaluate the safety, tolerability, pharmacokinetics and exploratory pharmacodynamics of oral AGT-100216 in healthy adult volunteers. The trial is a combined two-part study evaluating single ascending and multiple ascending doses of AGT-100216. Gerhard Koenig, PhD, CEO of Augustine, said: 'The initiation of our first clinical trial is a major milestone for Augustine. Decades of research have validated the therapeutic potential of HDAC6 as a target but efforts to drug it to date have been sub-optimal. Augustine is developing a new generation of HDAC6 inhibitors, like AGT-100216, with a unique mechanism of action shown to be selective, safe and effective in pre-clinical trials. Having recently raised EUR 78 million / USD 85 million in an oversubscribed Series A financing round, and with a strengthened management team, the Company is entering a new stage of growth. We are well positioned to progress AGT-100216 through clinical development for CMT and to also advance our pipeline of next-generation HDAC6 inhibitors in significant cardio-metabolic and neurodegenerative diseases.' Media Contacts: Augustine TherapeuticsGerhard Koenig, CEOE-mail: info@ ICR Healthcare Amber Fennell, Ashley TappE-mail: augustinetx@ About Augustine Therapeutics Augustine Therapeutics is a biotechnology company focused on the treatment of neuromuscular, neurodegenerative and cardio-metabolic diseases through its next-generation approach to selectively inhibit HDAC6. Augustine's HDAC6 inhibitors have been purposefully designed to selectively inhibit HDAC6 while preserving its beneficial non-catalytic functions. Augustine's lead program, AGT-100216, is the first selective HDAC6 inhibitor for long-term treatment of Charcot-Marie-Tooth (CMT) disease. With its novel non-hydroxamate, non-hydrazide producing chemotype, Augustine's HDAC6 approach is selective, avoids the limitations of other chemotypes, and built for chronic diseases. With this novel approach, the Company will also be targeting diseases beyond CMT, including neurodegenerative and cardio-metabolic diseases. Augustine Therapeutics was founded on the ground-breaking research of Prof. Ludo Van Den Bosch from the VIB-KU Leuven in Belgium. The Company raised an oversubscribed EUR 78 million / USD 85 million Series A financing round in March 2025, led by Novo Holdings and Jeito Capital and supported by Asabys Partners, Eli Lilly and Company, AdBio partners, V-Bio Ventures, PMV, VIB, Gemma Frisius Fund, the US-based Charcot-Marie-Tooth (CMT) Research Foundation and Newton Biocapital. For more information visit About Charcot-Marie-Tooth (CMT) diseaseCharcot-Marie-Tooth (CMT) disease is a genetically heterogeneous group of hereditary peripheral neuropathies characterized by progressive distal nerve damage, primarily affecting the feet, legs, hands, and arms. The disorder damages peripheral nerves, causing muscle weakness, loss of sensation and other disabling symptoms. CMT is the most common inherited neuromuscular disorder with an estimated frequency of 1 in 2,500 people worldwide and there are currently no approved cures available.
Daily Mail
24-05-2025
- Entertainment
- Daily Mail
Country music star Riley Green now unrecognizable after shaving off his mustache... and fans are stunned
Country music superstar Riley Green has shocked fans after changing one of his signature physical features. The Different 'Round Here hitmaker, 36, took to Instagram this week to post a selfie without his trademark mustache. Posing with his clean-shaven mug on full display, Green captured the photo, 'Never let em know your next move. #Shegone.' His new look received a strong reaction online and from the country community, with one leading country music radio station taking 'a moment of silence' to 'honor' Green's 'facial glory.' Fans online were mixed over Green's fresh-faced look, but the general reception was supportive. 'I like him without the mustache, it looks more handsome and younger!!!' gushed one. 'Too many guys with the mustache now days we need a few without it,' added another. 'He went from Tombstone to Dawson's Creek,' joked a third, while a fourth commented, 'Wow Looks so much younger! Handsome as heck.' Born in Jacksonville, Alabama, Green started out as a football quarterback before swapping the field for the stage. Before his music career took off, he appeared on the now defunct CMT reality series Redneck Island. Green won season four of the competition series, which was hosted by former WWE superstar Stone Cold Steve Austin. His big break in country music came in 2018 with his hit song There Was This Girl. The catchy track became a favorite at country radio and helped launch his first album, Different 'Round Here. Despite only reaching No. 95 on the Billboard 200, the album was a sleeper hit and was eventually certified gold for sales of more than 500,000 copies. His biggest hit came with 2019's I Wish Grandpas Never Died, which went triple platinum. In recent years, Riley has released two more albums, Ain't My Last Rodeo and Don't Mind If I Do, and teamed up with fellow country artists like Luke Combs and Ella Langley. His duet with Langley, You Look Like You Love Me, won a Country Music Association award in 2024. In recent months, Green has been romantically linked to country music darling Megan Moroney. Green insisted that he was still single back in March, but it hasn't stopped the speculation around him and Moroney.
