Latest news with #Charcot-Marie-Tooth
Yahoo
3 days ago
- Business
- Yahoo
A startup banks $66M to pursue ‘inclusive precision medicine'
This story was originally published on BioPharma Dive. To receive daily news and insights, subscribe to our free daily BioPharma Dive newsletter. Actio Biosciences, a San Diego-based biotechnology startup, announced Wednesday it raised a $66 million Series B financing to support drug research it's initially aiming at rare genetic diseases, but sees having broader potential, too. Actio's most advanced program is in early-stage testing for the degenerative nerve disorder Charcot-Marie-Tooth disease, but may also be useful in treating overactive bladder, the company said. A second program focused on a genetic form of epilepsy is expected to enter the clinic by the end of the year. The startup's Series B round was co-led by new investor Regeneron Ventures and existing backer Deerfield Management. Canaan, Droia Ventures and Euclidean Capital also participated. Actio emerged from stealth in late 2023 with $55 million in Series A funding and, since then, has brought two small molecule drugs either into or near clinical testing. One of the medicines it's developing, ABS-1230, is for epilepsies caused by mutations in a gene called KCNT1. These KCNT1-related epilepsies can strike early and come with severe health complications, such as an impact on brain function or even death. They're also the target of programs Praxis Precision Medicines, Servier and Atalanta Therapeutics, among others, are pursuing through different drugmaking methods. David Goldstein, Actio's CEO and formerly co-founder of Praxis, claimed that small molecules still hold the most promise for targeting epilepsies related to KCNT1, mutations which cause the overactivation of a kind of ion channel expressed in the brain. Some researchers turned to biologics, believing that they may have a better chance dealing with the disease's myriad mutations, he said. However, Actio believes its drug ABS-1230, which blocks this malfunctioning ion channel, should inhibit all repeatedly observed, disease-causing mutations, making it useful to many patients with the condition. "This kind of inclusive precision medicine is a key priority for the company," Goldstein said. Actio's other drug, ABS-0871, blocks a different ion channel protein called TRPV4 and is currently in a Phase 1 trial with healthy volunteers. By the end of the year, though, Actio intends to start a Phase 1b study in people with the Type 2C form of Charcot-Marie-Tooth, which is characterized by severe muscle weakness and respiratory complications. ABS-0871 is hoping it will show promise in overactive bladder, too, as part of the company's strategy to use insights from its rare disease research in more common disorders. Actio began raising its Series B round at the beginning of the year, and was able to complete it despite an accelerating, sector-wide pullback that's making it harder for companies to close funding rounds. Goldstein attributed its success to picking programs that have 'very high biological plausibility.' 'I'm sure that the climate will return back to funding those ideas that might be huge payoffs later, but it's just a little bit hard to predict,' Goldstein said. 'You really need to have programs that have a pretty predictable path.' 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
Business Wire
3 days ago
- Business
- Business Wire
Actio Biosciences Secures $66 Million Series B Financing to Advance Genetics-Driven Pipeline of Small Molecule Therapeutics for Rare and Common Diseases
SAN DIEGO--(BUSINESS WIRE)--Actio Biosciences, a clinical-stage biotechnology company leveraging a novel approach to genetics and precision medicine to develop new therapeutics that target shared underlying biology in both rare and common diseases, today announced the closing of a $66 million Series B financing. New investor Regeneron Ventures and current investor Deerfield Management co-led the financing, with participation from existing investors Canaan, Droia Ventures and Euclidean Capital. Actio's pipeline is led by ABS-1230, a KCNT1 inhibitor for the treatment of KCNT1-related epilepsy and other genetic epilepsies, and ABS-0871, a TRPV4 inhibitor currently being evaluated in a Phase 1 healthy volunteer clinical trial for the treatment of Charcot-Marie-Tooth disease type 2C (CMT2C) and overactive bladder. 'We have made tremendous progress across our pipeline – executing a precision medicine strategy that targets the root causes of disease through genetically informed drug development,' said David Goldstein, Ph.D., co-founder and CEO of Actio. 'ABS-1230 and ABS-0871 have the potential to be transformative disease-modifying therapies in their respective rare indications and growing evidence supports expansion into broader indications. This new funding from industry-leading investors speaks to the value of our approach and provides us with important resources to continue advancing our programs.' The Series B financing will support the advancement of Actio's lead programs, ABS-1230 and ABS-0871. ABS-1230 is a potential first-in-class oral, selective small molecule KCNT1 inhibitor for the treatment of KCNT1-related epilepsy, a rare and often fatal pediatric epileptic encephalopathy with a United States (U.S.) prevalence of approximately 2,500 individuals. In preclinical studies, ABS-1230 has been shown to inhibit all recurrently observed pathogenic mutations in the KCNT1 gene, making ABS-1230 broadly applicable to patients with KCNT1-positive epilepsy. Actio plans to initiate the healthy volunteer portion of a Phase 1 clinical trial of ABS-1230 in the second half of 2025 with plans to expand into a proof-of-concept Phase 1b study in KCNT1-related epilepsy patients in early 2026. ABS-1230 was recently granted both rare pediatric and orphan drug designations from the U.S. Food and Drug Administration (FDA). ABS-0871 is a potential first-in-class oral, small molecule TRPV4 inhibitor for the treatment of CMT2C, a rare inherited disorder that affects both motor and sensory functions with a U.S. prevalence of approximately 2,500 individuals. Preclinical evaluation of this program in novel construct valid CMT2C rare disease models has demonstrated marked improvements in motor function and mobility, compared to untreated controls. Given its mechanism of action targeting TRPV4, ABS-0871 may also have therapeutic potential for the treatment of overactive bladder. Actio is currently advancing ABS-0871 in the healthy volunteer portion of a Phase 1 clinical trial with plans to expand into a Phase 1b study in patients with TRPV4+ CMT2C in 2026. ABS-0871 was granted rare pediatric drug, orphan drug and fast track designations from the FDA. 'Actio has done an exceptional job of identifying serious unmet needs in rare disease and advancing solutions that may also be applicable to patients with more common diseases,' said Jason Fuller, Ph.D., Partner, Deerfield Management. 'We're pleased to support the company, encouraged by its progress, and excited by the team's potential to make a difference for patients.' About Actio Biosciences Actio Biosciences is a clinical-stage company leveraging advances in precision medicine to develop new therapeutics that target shared genetics in rare and common diseases—bringing meaningful medicines from one to many. Applying its expertise in genetics, drug discovery and data sciences, Actio seeks to identify programs where both biological and technical risk can be minimized to streamline the drug development process and bring forward exceptionally potent and precisely targeted therapeutics. Actio is advancing two lead rare disease programs – ABS-0871 and ABS-1230 – with first-in-class potential for the treatment of Charcot-Marie-Tooth disease, type 2C (CMT2C) and KCNT1-related epilepsy, respectively. Founded in October 2021, the San Diego-based company is guided by leaders in genetics and drug development and backed by top healthcare investors. For more information, please visit and follow the company on LinkedIn and X.
Daily Mirror
10-06-2025
- Health
- Daily Mirror
'Rare condition saw kids call me slug feet - I've turned it around'
John Nixon, 45, was smaller and weaker than his peers, and even his friends mimicked the way he walked A father who was at risk of life in a wheelchair or facing a double amputation has astonishingly transformed his fate through the world of bodybuilding. John Nixon, 45, endearingly known as 'Slug Feet' and 'Chicken Legs' during his school days, stood out for being smaller and weaker than his classmates, with even his mates copying his distinctive walk. John's struggle with Charcot-Marie-Tooth disease (CMT), a rare genetic neurological disorder that impairs peripheral nerves, wasn't identified until he reached 12 years old. The condition manifests through muscle wasting, peculiar foot shapes, frailty, and discomfort and often progresses over time. "I was always tripping up, falling over and twisting my ankles as a kid. Sports day was a nightmare," he recollected, mentioning how his feet and legs bore the brunt of his afflictions. "I had muscle wastage in my lower legs, feet deformity, including a high arch, hammer toes and bunions. I suffered with rolling ankles, dislocations, strength and balance issues." He explained the physical challenges he faces: "My feet push outward, my tendons are tight, and my toes claw back. I wear custom orthotic boots – without them I can't walk. Trainers just don't work for me anymore." Against medical advice that cautioned him never to lift weights and to exercise with caution, John, hailing from Rotherham, decided to defy the odds after the birth of his twin daughters, intent on making a change. "It was frustrating, and embarrassing. I was 28, weak, falling over all the time, relying on my twin daughters' pram just to stay upright," he said. His initial venture into the gym was petrifying as he was clueless about exercising and feared being judged. Nevertheless, his determination kept him going. "I thought 'I've got to do something'. I couldn't keep falling," he said. "My girls needed a dad who could keep up with them. "The gym was intimidating. My footwear was a nightmare. But I kept going, watching others, researching, and eventually got a PT qualification so I could help others too. "I was 6st 8lb (42kg) back then. I'm now 14st 2lb (90kg) in off-season. I've more than doubled my bodyweight – in muscle." Now, John enjoys better health and fitness than he experienced in his 20s, though it's not without ongoing challenges like pain, cramps, shocks and numbness, sometimes leading to crawling at home or ascending stairs on his backside. Currently, he opts out of nerve blockers for pain management: "I'd rather be in pain and functioning. I manage it through training and good food. If I ever need meds later, I want them to still work." Aside from his role as an area manager at ScrewFix, John also runs a personal coaching service, specialising in clients with disabilities, including those with CMT. "Everyone's symptoms are different. Some have thin legs, some don't. Some struggle more with their hands. Everything I do is tailored," he explained. John dedicates five days a week to the gym, spending up to two hours each session working on his fitness. "I like the structure. I do the same things, eat the same food, train at the same time. I thrive on routine," he revealed. His nutrition plan is rigorous, comprising of six meals daily and a calorie intake hitting 5,000 during the off-season. Kicking off at 5am, his breakfast consists of 150g oats, blueberries, prawns, and whey protein; throughout the day, he indulges in portions of chicken, lamb, rice, potatoes, and vegetables. Just before workouts, it's creamed rice, whey, and an oat bar for John, followed by a bowl of Coco Pops post-training; his day concludes with six egg whites, sourdough bread, turkey rashers, and mushrooms. "You try eating like that once - it's hard. Doing it every day is brutal. It's a full-time job just eating," he said. His commitment doesn't wane even while on holiday, as during a recent trip to Ibiza he maintained his diet meticulously: "I travelled with boiled eggs and got my food from the supermarket. You've got to adapt, it's part of the lifestyle." Currently, he takes pride in the trajectory of his journey, participating in bodybuilding competitions globally. "Eighteen years ago, I would never have posted videos of myself training," he confessed. "I was embarrassed about how I walked, how I stood. Now, I show it all on TikTok and Instagram. That confidence is priceless." Moreover, he's passionate about motivating others with the same condition to pursue a path towards health and wellbeing: "People with CMT often give up. They put weight on, stop moving, and it spirals. But there's another way. You can take control. You can feel strong. I'm living proof of that." Despite being fit, he faces the grim prospect of amputation: "My surgeon says surgery now might not help - the risk of making things worse is high at my age. If things get worse, amputation and blades might be the answer. I'd do it if I had to. It's £15,000 a pair for good ones, but I'll do what I need to." However, he acknowledges his situation could have been dire. "I'd definitely be in a wheelchair now if I hadn't started training. No doubt. The disease was progressing. I wouldn't be walking anymore," he said.
Yahoo
04-06-2025
- Entertainment
- Yahoo
Alan Jackson's final tour is over. Why his health condition has him calling it a career
Country music icon Alan Jackson, a Georgia native from Newnan, has officially played his last show on his "Last Call: One More for the Road Tour." After a 40-year journey in music, Jackson, 66, announced that the show on May 17 would be his last on tour—ever. The tour began in 2022 and continued through May 2025. The decision to tour one last time came despite his ongoing battle with a chronic neuropathy condition, which he first revealed in 2021. In addition to the final show of his tour, Jackson made a special announcement during the May 17 concert: he will return to Nashville in the summer of 2026 for one final performance. The exact date and location for the show will be revealed at a later time. For over a decade, Jackson has battled Charcot-Marie-Tooth disease, an illness that has affected his ability to move and stay balanced on stage. In a 2021 interview with the "TODAY" show's Jenna Bush Hager, Jackson said he inherited the disease from his father, and it has affected several members of his family. He was diagnosed with the disease in 2011. According to the National Institute of Neurological Disorders and Stroke, Charcot-Marie-Tooth disease causes a range of sensory and motor symptoms, including numbness, tingling, pain, muscle weakness and atrophy — deterioration in cells, tissues, and organs. The disease can also cause foot deformities that worsen over time. In some cases, the disease can affect the nerves that control automatic body functions, leading to problems with sweating and dizziness. Muscle weakness from the disease typically begins in the feet and lower legs during the teen years or early adulthood, though symptoms can appear at any age, reported the institute. Over time, the weakness may spread to the fingers, hands, and arms. Some individuals with CMT might be unaware they have the condition, while others may experience physical disabilities. Symptoms may include: Weakness or paralysis in the foot and lower leg muscles A high-stepping walking pattern with frequent tripping or falling Balance problems Foot deformities, like high arches and curled toes Lower legs with an "inverted champagne bottle" shape due to the loss of muscle bulk Trouble feeling heat, cold and touch Possible hand weakness and atrophy Decreased ability to sense vibrations or know body position Scoliosis Hip displacement A chronic shortening of muscles or tendons around joints Muscle cramps Nerve pain Charcot-Marie-Tooth is mostly an inherited disorder, meaning people with a family history of the disease are more likely to develop it. If a person has the disease, that doesn't mean their children will have it, but it does increase the risk, said the institute. There is no cure for the disease, however treatment programs like physical and occupational therapy can help manage symptoms and help people maintain quality of life, said the institute. Orthopedic devices and surgery may help with symptoms, and doctors may prescribe medication for severe nerve pain. Vanessa Countryman is the Trending Topics Reporter for the the Deep South Connect Team Georgia. Email her at Vcountryman@ This article originally appeared on Savannah Morning News: Alan Jackson health condition: Why he's calling it a career from touring
Euronews
02-06-2025
- Business
- Euronews
UK ban on single-use vapes comes into force to stop children's use
A ban on disposable vapes came into force across the United Kingdom on Sunday as the British government aims to stem their use by children, reduce litter, and prevent the leaking of harmful chemicals into the environment. The ban makes it illegal for any retailer – online or in-store – to sell vapes, whether they contain nicotine or not. They will still be able to sell reusable vapes. The crackdown follows the soaring use of disposable vapes in schools and a rising tide of trash as users dispose of the vapes. It is estimated that as many as 5 million disposable vapes are thrown in bins or littered every week across the UK, rather than being recycled. A number of countries are seeking to regulate the vape market, which has grown exponentially over the past decade or so. Australia outlawed the sale of vapes outside pharmacies last year in some of the world's toughest restrictions on electronic cigarettes, while Belgium became the first European country to ban the use of disposable vapes at the start of this year. California has been at the forefront of bringing in new regulations in the United States. The UK's Department for Environment, Food and Rural Affairs said usage among young people remained too high, and the ban would "put an end to their alarming rise in school playgrounds and the avalanche of rubbish flooding the nation's streets". Also known as single-use vapes, disposable vapes are non-refillable and unable to be recharged, and are typically thrown away with general waste or just thrown on the street. Even when they are recycled, they need to be taken apart by hand, while their batteries are a fire risk to recycling facilities and can leak harmful chemicals into the environment and potentially harm wildlife. Businesses were given six months to prepare for the change by selling any existing stock. Rogue traders who continue to sell them risk a fine of £200 (€239) in the first instance, followed by an unlimited fine or jail time for repeat offending. The UK Vaping Industry Association said its members had moved quickly to comply with the June 1 deadline, but warned of "serious unintended consequences" emanating from too much regulation. "We are concerned that this ban will encourage former smokers who have already transitioned from cigarettes, which kill 220 people every day in the UK, to return to combustible tobacco or opt for unregulated vapes," said its director general, John Dunne. Separately, the British government is legislating to potentially restrict the packaging, marketing and flavours of e-cigarettes. 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'.
