Latest news with #CPVT
Yahoo
08-07-2025
- Business
- Yahoo
Solid Biosciences Announces FDA IND and Health Canada CTA Approval for First-in-Class Cardiac Gene Therapy to Treat Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)
- SGT-501 is a novel gene therapy for rare, life-threatening, genetic arrhythmogenic disease with no approved therapies - - SGT-501 has received Orphan Drug Designation and Rare Pediatric Disease Designation from the FDA - - Solid expects to initiate Phase 1b clinical trial of SGT-501 in the fourth quarter of 2025 - - Expands Solid's clinical pipeline to include first cardiac indication with urgent unmet medical need - CHARLESTOWN, Mass., July 08, 2025 (GLOBE NEWSWIRE) -- Solid Biosciences Inc. (Nasdaq: SLDB) (the 'Company' or 'Solid'), a life sciences company developing precision genetic medicines for neuromuscular and cardiac diseases, today announced approval of its Investigational New Drug (IND) application by the U.S. Food and Drug Administration (FDA) and clinical trial application (CTA) by Health Canada for SGT-501, a novel gene therapy approach for the treatment of catecholaminergic polymorphic ventricular tachycardia (CPVT), a highly malignant, arrhythmogenic channelopathy caused by genetic mutations that impact the ryanodine receptor (RYR2) in cardiac muscle. The Company expects to initiate a Phase 1b clinical trial to evaluate the safety, tolerability and efficacy of SGT-501 in the fourth quarter of 2025. Gabriel Brooks, M.D., Chief Medical Officer of Solid, said: 'Despite being identified nearly 50 years ago, CPVT still lacks FDA-approved therapies – this announcement reflects a critical development in the treatment of this underserved, often fatal, cardiac disease. SGT-501 offers a precision genetic approach targeting the underlying pathophysiology of the disease: abnormal calcium releases from the sarcoplasmic reticulum in an otherwise structurally sound heart. We believe SGT-501 has the unique potential to provide durable protection and may be capable of liberating patients from the ever-present threat of lethal arrhythmias and life-limiting prohibitions on exercise. Solid is proud to launch this program to help address this clear unmet need, further expanding our pipeline of differentiated and thoughtfully designed genetic medicines.' Silvia Priori, M.D., Ph.D., Professor of Cardiology at the University of Pavia and Director of the Molecular Cardiology Unit at the IRCCS Maugeri in Pavia, Italy, said: 'After decades during which we, the clinical community, have been limited in our ability to treat people living with CPVT, I have long hoped for the day when a genetic-modifying therapy becomes available. We are proud to partner with Solid who advanced fundamental work from our labs at Maugeri, which demonstrated the principle that calsequestrin overexpression can have a therapeutic impact on multiple forms of CPVT in both cellular and mouse models of disease. This work was further developed into a compelling IND safety and efficacy package through close collaboration with, and studies conducted by, the Solid team. I look forward to clinical updates for SGT-501 and seeing how this potential medicine may benefit people living with CPVT who are in critical need of disease-specific medicines.' About SGT-501SGT-501 is an AAV-based gene therapy candidate designed to deliver a functional, full length, codon-optimized copy of the human cardiac calsequestrin (CASQ2) gene to heart muscle cells. In the context of RYR2 variants, increasing CASQ2 protein levels enhances buffering of free calcium in the sarcoplasmic reticulum, stabilizing the RYR2, which results in reduced diastolic calcium leak into the cytosol. Stabilization of the RYR2 in its closed conformation supports the maintenance of normal cardiac rhythm with the potential to protect against ventricular tachycardia. SGT-501 received Orphan Drug Designation and Rare Pediatric Disease Designation from the U.S. FDA and has potential as a first-in-class therapy to correct the underlying RYR2 instability and calcium dysregulation causes of CPVT. The AAV-CASQ2 gene therapy approach utilized by SGT-501 was pioneered by Dr. Silvia Priori and the IRCCS ICS Maugeri lab in Pavia, Italy. As a globally recognized leader in inherited arrhythmias, Dr. Priori has long been at the forefront of translational cardiac research. Solid Biosciences in-licensed this innovative therapeutic in 2023 and subsequently advanced it into IND-enabling preclinical development, marking an important step toward bringing this potential treatment to individuals living with CPVT. About Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a heart condition marked by abnormal rhythms; specifically, an abnormally fast heartbeat (ventricular tachycardia), which can be triggered by adrenergic stimulation such as physical activity or emotional stress. These arrhythmias can cause unexplained fainting, seizures, cardiac arrest and sudden death. CPVT is estimated to affect roughly 1 in 10,000 individuals globally, although it is often misdiagnosed, and is typically identified in children and young adults. It is mainly caused by mutations in the RYR2 and CASQ2 genes, which disrupt calcium regulation in heart muscle cells, impairing proper heart contraction and relaxation. There are currently no treatments that address the underlying mechanisms of CPVT. To learn more about CPVT and SGT-501, watch a brief CPVT expert and patient video by clicking here. About Istituti Clinici Scientifici Maugeri Spa SB (ICS Maugeri)ICS Maugeri S.p.A. Società Benefit is Italy's leading healthcare provider specializing in rehabilitation and comprehensive care for vulnerable patients. It stands out for its strong focus on scientific research, operating 18 Clinical Institutes - including 9 recognized as IRCCS (Scientific Institutes for Research, Hospitalization and Healthcare) and 9 as Scientific Clinical Institutes -along with 6 outpatient centers, 1 Environmental Research Center, and a Poison Control Center and National Toxicology Information Center. ICS Maugeri is involved not only in scientific research but also in the application of advanced technologies across medical disciplines, offering personalized care pathways and centers of excellence for specific conditions and clinical specialties. The Group employs more than 4,000 professionals, where medical and professional excellence is intrinsically linked to core values of equity, inclusivity, equality, and transparency - principles that have always guided Maugeri's mission. Headquartered in Pavia, ICS Maugeri operates 23 healthcare facilities across 7 Italian regions, including 9 IRCCS, 10 Scientific Clinical Institutes, 5 outpatient clinics, a Poison Control Center –Toxicology Center, and an Environmental Research Center. About Solid BiosciencesSolid Biosciences is a precision genetic medicine company focused on advancing a portfolio of gene therapy candidates targeting rare neuromuscular and cardiac diseases, including Duchenne muscular dystrophy (Duchenne), Friedreich's ataxia (FA), catecholaminergic polymorphic ventricular tachycardia (CPVT), TNNT2-mediated dilated cardiomyopathy, BAG3-mediated dilated cardiomyopathy, and additional fatal, genetic cardiac diseases. The Company is also focused on developing innovative libraries of genetic regulators and other enabling technologies with promising potential to significantly impact gene therapy delivery cross-industry. Solid is advancing its diverse pipeline and delivery platform in the pursuit of uniting experts in science, technology, disease management, and care. Patient-focused and founded by those directly impacted by Duchenne, Solid's mission is to improve the daily lives of patients living with devastating rare diseases. For more information, please visit Forward-Looking StatementsThis press release contains 'forward-looking statements' within the meaning of the Private Securities Litigation Reform Act of 1995, including statements regarding future expectations, plans and prospects for the Company; the ability to successfully achieve and execute on the company's goals, priorities and achieve key clinical milestones; the Company's pipeline of programs for neuromuscular and cardiac diseases, including its SGT-501, SGT-212 and SGT-003 programs and expectations for CTA filings, site activations, clinical development, initiation and enrollment in clinical trials, dosing, availability of clinical trial data and potential accelerated approval; the sufficiency of the Company's cash, cash equivalents, and available-for-sale securities to fund its operations; and other statements containing the words 'anticipate,' 'believe,' 'continue,' 'could,' 'estimate,' 'expect,' 'intend,' 'may,' 'plan,' 'potential,' 'predict,' 'project,' 'should,' 'target,' 'would,' 'working' and similar expressions. Any forward-looking statements are based on management's current expectations of future events and are subject to a number of risks and uncertainties that could cause actual results to differ materially and adversely from those set forth in, or implied by, such forward-looking statements. These risks and uncertainties include, but are not limited to, risks associated with the company's ability to advance SGT-501, SGT-212, SGT-003, SGT-601, SGT-401 and other preclinical programs and capsid libraries on the timelines expected or at all; obtain and maintain necessary approvals from the FDA and other regulatory authorities; replicate in clinical trials positive results found in preclinical studies and early-stage clinical trials of the company's product candidates; obtain, maintain or protect intellectual property rights related to its product candidates; compete successfully with other companies that are seeking to develop Duchenne, Friedreich's ataxia and other neuromuscular and cardiac treatments and gene therapies; manage expenses; and raise the substantial additional capital needed, on the timeline necessary, to continue development of SGT-501, SGT-212, SGT-003, SGT-601, SGT-401 and other candidates, achieve its other business objectives and continue as a going concern. For a discussion of other risks and uncertainties, and other important factors, any of which could cause the company's actual results to differ from those contained in the forward-looking statements, see the 'Risk Factors' section, as well as discussions of potential risks, uncertainties and other important factors, in the company's most recent filings with the Securities and Exchange Commission. In addition, the forward-looking statements included in this press release represent the company's views as of the date hereof and should not be relied upon as representing the company's views as of any date subsequent to the date hereof. The company anticipates that subsequent events and developments will cause the company's views to change. However, while the company may elect to update these forward-looking statements at some point in the future, the company specifically disclaims any obligation to do so. Solid Biosciences Investor Contact:Nicole AndersonDirector, Investor Relations and Corporate CommunicationsSolid Biosciences Media Contact:Yuliya Kutuzava FINN 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
Otago Daily Times
25-06-2025
- Health
- Otago Daily Times
Club donates life-saving device to give teen freedom, safety
Presenting a defibrillator to Aiden Cottrell (centre) and his father Luka (right) are Wyndham Pioneer Lions Club members (from left) Jan Wylie, Emma Stuck and Wendy Henry. PHOTO: SUPPLIED A new defibrillator will help a young man with a heart condition — which nearly killed him — to travel freely, after a generous donation by a community group. Aiden Cottrell, 13, has catecholaminergic polymorphic ventricular tachycardia (CPVT), which caused him to have a cardiac arrest earlier in the year during a school event. Aiden was running the final leg of a relay race at Menzies College in February when he collapsed. Quick work by school staff and emergency services kept him alive, followed by six weeks in hospital. The Wyndham Pioneer Lions Club heard about the incident, and after a meeting of its committee, agreed to buy an automatic external defibrillator (AED) device for Aiden and his family. The AED cost about $3500 but could be the difference between life and death, especially in rural communities. Club president Emma Stuck said for a family such as Aiden's, who might need an AED at any time, the $3500 purchase was a lifesaver. "We've got a lot within the community, but none which are accessible 24/7. "So with Aidan's need, they can have one with them, rather than find one on the go during an emergency." Law firm Mee & Henry Law helped with getting the right model and fundraising. The device now sits with the family as extra security against a medical event. Aiden's mum JP Cottrell said it was a massive comfort, especially considering how remote the family was from immediate medical help. "With living rural, if something were to happen at home, first responders are quick, but being able to administer a shock as soon as possible is one of the most comforting things for us," she said. Mrs Cottrell, who also has CPVT, could not express her gratitude to the club and the law firm enough. "There's no words, it's just such a massive gift and it means I can be there to save his life, and so can mine. "It's immeasurable. "'Thank you' doesn't feel like it's enough." — APL
Daily Record
02-05-2025
- Health
- Daily Record
Girl left brain damaged after doctors dismiss seizures as anxiety
Rubie Boyton has a rare heart rhythm disorder - which her mum Kim Tucker says should have been diagnosed earlier. A teenage girl told her seizures were caused by anxiety has now been left brain damaged - after being diagnosed with a rare disease. Rubie Boyton had just turned 16 when she suffered a cardiac arrest in a park near her home in Ashford, Kent. The traumatic ordeal left her brain starved of oxygen for 31 minutes - and she is therefore no longer able to communicate properly. Rubie had suffered two seizures before her cardiac arrest - but her mum says doctors put them down to anxiety and no further testing was done. But now, it has been revealed that Rubie has a rare heart rhythm disorder - which her mum Kim Tucker says should have been diagnosed earlier. Kim said: "I feel sadness because Rubie didn't deserve this. She had two previous seizures and no further testing was done. It was just put down to anxiety. "Nobody had thought it could be a warning sign. I guess if doctors were worried they would have done more tests." Rubie has been diagnosed with a condition called catecholaminergic polymorphic ventricular tachycardia (CPVT) which affects one in 10,000 people. It is understood to be passed down by a parent via a faulty gene - and can cause an abnormally fast heartbeat if triggered by physical or emotional stress. Rubie's disorder was set off last May while she was out with friends and they were approached by another group of girls. Kim said: "I believe [the event in the park] was enough to cause some emotional stress, which set off the episode which led to her cardiac arrest. If it hadn't happened that day, it would have absolutely happened at another time. "Rubie was a keen dancer - which we realise now could have even set it off. If your child were to faint or have a seizure when they are in physical or emotional stress, then I'd go for a private genetic test to avoid anything like this happening." After Rubie collapsed, a brave friend of hers performed CPR while they waited for medics to arrive. The 16-year-old was then airlifted to London's King's College Hospital and placed into an induced coma. Doctors later established that she had suffered life-changing brain damage. As Rubie had suffered two previous seizures - one in 2020 and another in 2022 - her family feel frustrated that her condition was not picked up sooner. Instead, Rubie was only offered paracetamol - as the second incident saw her develop a headache shortly afterwards. Following her cardiac arrest, Rubie spent nine months in London and then was transferred to Kent and Canterbury Hospital. Now, she is still unable to communicate properly or eat or drink orally - and suffers from a movement disorder called dystonia. At the moment, Rubie is struggling with a dangerously high heartbeat - but Kim says she has still been doing "a lot of smiling and laughing". It is hoped Rubie will soon be able to return home, where she lives with her mum Kim, stepdad Simon, siblings Caylen, 24, Abbi, 19, Hunter, four, and River, three, as well as one-year-old nephew Luka. However, Rubie's home is currently unsuitable for her needs - but the family are unable to afford the work required as both Kim and Simon have had to stop work to care for Rubie. Therefore, they have set up a GoFundMe which they hope will finance Rubie's 'own little house' - featuring a bedroom, lounge, and wet room. So far, they have raised £14,000 of their £20,000 target. Other symptoms of CPVT include blackouts, palpitations, dizziness, and fainting. The disease is understood to be inherited - and so both Kim and Abbi have started testing to see if they are carriers of the faulty gene.
Yahoo
07-04-2025
- Health
- Yahoo
Emporia student's health emergency compels Legislature to invest in planning, training
Reagan Herrman, a 15-year-old Emporia resident, survived an episode of cardiac arrest during a 2023 basketball game when trained personnel made use of an automated external defibrillator that restarted her heart. She advocates for cardiac emergency planning in public schools and funding for districts to acquire AED equipment and training. (Max McCoy/Kansas Reflector) TOPEKA — Reagan Herrman's heart condition remained hidden until halfway through a summer youth basketball game at Washburn University when she became short of breath and struggled to reach the team's bench. 'I went behind the bench, because my coach was also my dad. He told me to go walk, to walk it off. So I did and sat on the bench. Just as soon as I sat down, as I remember it, it all went black,' she said. Herrman collapsed and went into cardiac arrest. Health professionals and others trained in CPR jumped into action. Eventually, a portable medical device known as an AED, or automated external defibrillator, was deployed. It delivered a single electric shock that restored her heartbeat. 'If the shock wasn't delivered, I don't think I would have made it,' she said on the Kansas Reflector podcast. 'I remember waking up, being out of breath, breathing really heavy and then seeing people all around me. I heard voices and shouting and see people talking to me. Like 'Reagan, can you hear me?' Then I saw my mom, which she says I said, 'I love you.' ' Herrman's heart stopped for approximately four minutes on a Topeka basketball court on July 16, 2023. She was unresponsive and began to turn blue. The university's preparation for health emergencies and the availability of a defibrillator saved the life of the then-13 year old Emporia resident. She was airlifted to a hospital and spent a week in a cardiac intensive care unit. Doctors diagnosed Herrman with CPVT, or catecholaminergic polymorphic ventricular tachycardia, which is an inherited condition causing sudden heart rhythm disturbances in otherwise healthy children. She recovered and, eventually, was cleared to resume sports activities. But Herrman's story didn't end there. The young cardiac-arrest survivor served as motivation for the Kansas Legislature to pass a 2024 law requiring public schools to develop cardiac emergency response plans that included CPR and AED training of key personnel. It was modeled after the Emporia school district's decision in wake of Herrman's experience to add 14 new AEDs to district buildings, provide training for school personnel and coaches, and install 120 signs to point people to lifesaving equipment. 'It is our hope that Reagan's story can serve as a catalyst for change in Kansas' approach to AED accessibility,' her mother, Amanda Herrman, told House and Senate lawmakers. 'Reagan's experience underscores the critical importance of this initiative. Our family feels blessed for the fortunate outcome that day, knowing that many other families may not have such a story to tell.' That bill was supported by other Kansans with firsthand knowledge of cardiac arrest. The legislation required public schools to create cardiac emergency response plans and work to outfit buildings with AEDs. The bill received broad support in the House and Senate. Reagan Herrman, who didn't know CPR before enduring her own cardiac emergency, was in the Capitol for signing of the bill. During the 2025 legislative session, the American Heart Association worked to convince the Legislature to appropriate $1.5 million to pay for CPR and AED training programs and the equipment purchases. That funding was included in a large budget bill awaiting action by Gov. Laura Kelly. Kari Rinker, who works as a lobbyist for the American Heart Association, was involved in rallying support for additional funding to help Kansas public schools comply with the emergency training standard. 'There have been challenges in some communities getting this in place. Especially rural communities might have fewer training resources,' Rinker said. Access to additional training and positioning of equipment in schools could reduce the hesitancy some people have about jumping into an emergency, she said. Rinker said the survival rate of people who experienced cardiac arrest was around 10% without an immediate response from people on the scene. If CPR was performed quickly, she said, the survival rate could be doubled or tripled. When a child goes into cardiac arrest in a school with AEDs onsite, however, approximately 70% survive. 'Yet, fewer than 50% of people say they are confident to step in and perform this function. We want to improve that. We want to create a nation of lifesavers,' she said. The $1.5 million in Senate Bill 125 was significant because a separate grant opportunity for schools to acquire AED equipment or training was eliminated due to a technicality. Reagan Herrman said, if given a chance, would urge the governor to support emergency medical funding for Kansas schools. 'I think this is just icing on the cake to finish what we started,' she said. 'I'd say, honestly, it is a dream coming true.'
