Brugada Syndrome

NEW YORK, Jan. 4, 2024 /PRNewswire/ -- In a study designed to better understand sudden, unexpected deaths in young children, which usually occur during sleep, researchers have identified brief seizures, accompanied by muscle convulsions, as a potential cause. Experts estimate in excess of 3,000 families each year in the United States lose a baby or young child unexpectedly and without explanation. Most are infants in what is referred to as sudden infant death syndrome, or SIDS, but 400 or more cases involve children aged 1 and older, and in what is called sudden unexplained death in children (SUDC). Over half of these children are toddlers. The study findings come from a registry of more than 300 SUDC cases, set up a decade ago by researchers at NYU Grossman School of Medicine. Researchers used extensive medical record analysis and video evidence donated by families to document the inexplicable deaths of seven toddlers between the ages of 1 and 3 that were potentially attributable to seizures. These seizures lasted less than 60 seconds and occurred within 30 minutes immediately prior to each child's death, say the study authors. For decades, researchers have sought an explanation to sudden death events in children, noticing a link between those with a history of febrile seizures (seizures accompanied by fever). Earlier research had reported that children who died suddenly and unexpectedly were 10 times more likely to have had febrile seizures than children who did not die suddenly and unexpectedly. Febrile seizures are also noted in one-third of SUDC cases registered at NYU Langone Health. Publishing in the journal Neurology online Jan. 4, the new study involved an analysis by a team of eight physicians of the rare SUDC cases for which there were also home video recordings, from either security systems or commercial crib cameras, made while each child was sleeping on the night or afternoon of their death. Five of seven recordings were running nonstop at the time and showed direct sound and visible motion indicative of a seizure happening. The remaining two recordings were triggered by sound or motion, but only one suggested that a muscle convulsion, a sign of seizure, had occurred. As well, only one toddler had a documented previous history of febrile seizures. All children in the study had previously undergone an autopsy that revealed no definitive cause of death. "Our study, although small, offers the first direct evidence that seizures may be responsible for some sudden deaths in children, which are usually unwitnessed during sleep," said study lead investigator Laura Gould, M.Sc., MA, PT, a research assistant professor at NYU Langone. Gould lost her daughter, Maria, to SUDC at the age of 15 months in 1997, a tragedy that prompted her successful lobby for establishment of the NYU SUDC Registry and Research Collaborative. Gould points out that if not for the video evidence, the death investigations would not have implicated a seizure. "These study findings show that seizures are much more common than patients' medical histories suggest, and that further research is needed to determine if seizures are frequent occurrences in sleep-related deaths in toddlers, and potentially in infants, older children, and adults," said study senior investigator and neurologist Orrin Devinsky, MD. Devinsky, a professor in the Departments of Neurology, Neurosurgery, and Psychiatry at NYU Langone, as well as chief of its epilepsy service, adds that "convulsive seizures may be the 'smoking gun' that medical science has been looking for to understand why these children die. "Studying this phenomenon may also provide critical insight into many other deaths, including those from SIDS and epilepsy," said Devinsky, who cofounded the SUDC Registry and Research Collaborative at NYU Langone with Gould. Further research, Devinsky notes, is also needed to determine precisely how seizures with or without fever may induce sudden death. Previous research in epilepsy patients, he says, points to difficulty breathing that is known to occur immediately after a seizure and that can lead to death. This has been found to happen more frequently in epilepsy patients, as it does in the children involved in the study, while they are sleeping face down on the stomach and without anyone witnessing the death. Continuous monitoring of child deaths and improvements in health records to track how often these convulsive seizures precede death, he explains, will be needed for this to be confirmed. Seizure-related deaths are underreported in both people with and without epilepsy. For the study, experts in forensic pathology, neurology, and sleep medicine analyzed each recording for video quality, sound, and motion. From this, they were able to determine which toddlers showed signs of muscle convulsions as a sign of seizures prior to their death and when. Access to the videos was and remains strictly limited to the researchers involved in the study. Funding support for this study was provided by SUDC UK, FACES at NYU Langone Health, and the SUDC Foundation. Additional funding support was provided by the National Center for Advancing Translational Sciences and National Institutes of Health grant UL1TR001445. Besides Gould and Devinsky, other NYU Langone researchers involved in this study are Codi-Ann Reid, BS; and Alcibiades Rodriguez, MD. Co-investigators of the SUDC video study group are Alison Krywanczyk, MD, at the Cuyahoga County Medical Examiner's Office in Cleveland; Kristen Landi, MD, at the New York City Office of the Chief Medical Examiner; Melissa Guzzetta, DO, at the Office of the County Medical Examiner in Middlesex, N.J.; Heather Jarrell, MD, at the Office of the Medical Investigator, University of New Mexico, in Albuquerque; Kelly Lear, MD, at the Arapahoe County Coroner's Office in Centennial, Colo.; Tara Mahar, MD, and Katherine Maloney, MD, at the Erie County Medical Examiner's Office in Buffalo, N.Y.; Declan McGuone, MBBCh, at Yale University in New Haven, Conn.; Alex Williamson, MD, at Zucker School of Medicine at Hofstra/Northwell in Hempstead, N.Y.; Katheryn Pinneri, MD, at the Montgomery County Forensic Service in Conroe, Texas; and Victoria Delavale, MPH, and Daniel Friedman, MD, at NYU Grossman School of Medicine. Media Inquiries: David March 212-404-3528 [email protected] SOURCE NYU Langone Health System

SAN DIEGO--(BUSINESS WIRE)-- Rejuvenate Bio, today announced new preclinical efficacy data for RJB-0402, a gene therapy targeting key disease-mediating pathways. RJB-0402 demonstrated efficacy in a mouse model of arrhythmogenic cardiomyopathy (ACM), an inherited disease caused by mutations in one of several genes encoding desmosomal proteins. A single dose of RJB-0402 was able to significantly improve cardiac function, preserve cardiac structure, and dramatically reduce premature ventricular contractions (PVCs) to normal levels. RJB-0402 was superior to gene replacement regarding its ability to normalize arrhythmias and demonstrated comparable effect on preservation of cardiac structure and function in this mouse model of ACM, which recapitulates human disease by disrupting the structure of the cardiac desmosome. Desmosomal proteins are essential for maintaining the integrity of cardiac muscle and individual muscle cells. Desmosomal protein mutations can disrupt the normal function of the heart and may result in life threatening heart rhythms and other cardiac issues, such as ACM, a rare and severe genetic heart condition that can be debilitating and life threatening. The current standard of care for patients with ACM consists of medications targeting arrhythmia management and heart failure, implantable cardioverter defibrillators (ICDs), and cardiac catheter ablations, none of which are curative. Even with optimal treatment, life-threatening arrhythmias and disease progression still occur, and can lead to heart failure. There are no disease-modifying treatments for ACM, other than cardiac transplant for late-stage disease. ACM therefore presents a profound unmet medical need for patients with the disease. “RJB-0402 shows exciting potential to be a significant breakthrough for patients suffering from this severe, life-limiting disease, who have an urgent need for better treatment options. If this approach proves effective to treat ACM, it would have a dramatic impact on the profound burden this disease has on patients and their families,” said Hugh Calkins, MD, Professor of Cardiology and Director of the Johns Hopkins Arrhythmia Service and the ARVD/C Program. “What makes RJB-0402 especially promising is its superior performance in the ACM nonclinical model, outperforming gene replacement therapies in reducing PVCs. Since RJB-0402 is not a mutation-specific gene therapy, this suggests that it has the potential to address all causes of ACM including those without known mutations, estimated to be 130,000 individuals, rather than being limited to a specific genetic subgroup, like gene replacement therapies,” said Daniel Oliver, CEO & Co-Founder, Rejuvenate Bio. “ARVC is a progressive genetic disorder that can affect multiple generations of family members. One of the first symptoms of ARVC can be sudden cardiac arrest, which can lead to sudden death. Therapies that are agnostic of the individual’s specific mutation are a vital avenue of investigation and we are thrilled to learn of Rejuvenate Bio’s continued progress in this area. This research gives much-needed hope to all families affected by ARVC,” said Alice Lara, President of the Sudden Arrhythmia Death Syndromes (SADS) Foundation. RJB-0402 is a liver-targeting adeno-associated virus vector-based gene therapy that drives over expression of FGF21. Since the doses required to overexpress FGF21 in the liver are meaningfully lower than those required for traditional AAV gene replacement therapies, this approach may have a beneficial effect on the safety pro the investigational product and could also dramatically reduce manufacturing costs. The initial clinical study for RJB-0402 will focus on patients with Desmoplakin-related arrhythmogenic cardiomyopathy (DSP ACM) at high risk of life-threatening ventricular arrhythmias and sudden cardiac death. “We see great promise for this therapy to treat this severe, life-threatening disease and improve the quality of life for patients with DSP ACM and look forward to engaging with the FDA in the near future to align on the requirements to initiate an IND,” said Deborah Ascheim, MD, Chief Medical Officer, Rejuvenate Bio. About Rejuvenate Bio Rejuvenate Bio is a gene therapy company focused on treating chronic disease based upon breakthrough technology developed at the Wyss Institute at Harvard University. Rejuvenate Bio utilizes gene therapy, proprietary targets, and tools to bring treatments to patients suffering from chronic conditions. The company is developing a pipeline of therapies with applications in cardiac and metabolic diseases. The company raised a Series A financing in 2021 led by Kendall Capital Partners, Digitalis Ventures, KdT Ventures and V Capital. Rejuvenate Bio is based in San Diego for more information, visit .

DUBLIN, Aug. 23, 2023 /PRNewswire/ -- The "Global Urea Cycle Disorders Treatment Market 2017-2027" report has been added to ResearchAndMarkets.com's offering. The global urea cycle disorders treatment market is poised for impressive growth in the forecast period from 2023 to 2027. This upward trajectory is fueled by a combination of factors, including the increasing prevalence of urea cycle disorders and substantial research and development efforts. Various catalysts are propelling this market's expansion, including heightened investments in research and development, growing initiatives by key industry players, heightened awareness, improved healthcare services, and a surge in innovative diagnostic methods. Rising Prevalence of Urea Cycle Disorders A surge in the prevalence of urea cycle disorders is expected to drive global market growth. Reports from the Centers for Disease Control and Prevention (CDC) indicate a projected incidence of 1 in 8500 births for urea cycle disorders. However, the actual number may be higher due to undiagnosed cases. It is estimated that up to 20% of Sudden Infant Death Syndrome (SIDS) cases may be attributed to undiagnosed inborn metabolic errors such as urea cycle disorders. This underscores the urgency of addressing and treating these disorders, thus catalyzing growth in the urea cycle disorders treatment market. Initiatives and Awareness Fueling Growth Governments and private organizations worldwide have ramped up efforts to support market growth. These initiatives encompass substantial investments in research and development, increased awareness campaigns, extensive research endeavors, clinical trials, and streamlined regulatory approvals. For instance, the merger of Mead Johnson Nutrition Company (MJN) with Reckitt Benckiser Group plc (RB) in 2017 bolstered the dietary management of urea cycle disorders by integrating brands like Enfa and Nutramigen into RB's consumer health portfolio. Similarly, Horizon Pharma plc's UCD in Common initiative offers resources and support for individuals with urea cycle disorders and their families. Leading Players and Geographic Outlook Market players shaping the global urea cycle disorders treatment market landscape include: Bausch Health Companies Inc. Recordati Rare Diseases Eurocept Pharmaceuticals Holding (Lucane Pharma SA) Acer Therapeutics Ultragenyx Pharmaceutical Aeglea BioTherapeutics Arcturus Therapeutics, Inc. Orpharma Pty. Ltd. Selecta Biosciences, Inc Abbott Laboratories, Inc. In terms of geographic spread, the United States is anticipated to be a pivotal market due to its escalating cases of urea cycle disorders. Conclusion: Navigating the Path Forward As the global urea cycle disorders treatment market marches ahead, it is driven by an amalgamation of factors that recognize the critical importance of addressing these genetic disorders. The rising prevalence, backed by initiatives, investments, and awareness, underscores the market's growth potential. A meticulously segmented market landscape, comprising diverse enzyme deficiency types, treatment options, routes of administration, and distribution channels, reflects the multifaceted approach adopted to combat urea cycle disorders. Amid these dynamics, leading players are contributing their expertise, while geographic trends emphasize the significance of targeted interventions. As the market evolves, it holds the promise of transforming lives and healthcare outcomes on a global scale. Report Scope In this report, global urea cycle disorders treatment market has been segmented into the following categories, in addition to the industry trends, which have also been detailed below. Urea Cycle Disorders Treatment Market, By Enzyme Deficiency Type: Carbamyl Phosphate Synthetase (CPS1) N-Acetylglutamate Synthetase (NAGS) Ornithine Transcarbamylase (OTC Deficiency) Argininosuccinic Acid Synthetase (AS) Argininosuccinate Lyase (AL or ASA Lyase) Arginase (AG) Urea Cycle Disorders Treatment Market, By Treatment Type: Amino Acid Formulas Phenylbutyrate Sodium Benzoate Others Urea Cycle Disorders Treatment Market, By Route of Administration: Oral Intravenous Urea Cycle Disorders Treatment Market, By Distribution Channel: Hospital Pharmacies Retail Pharmacies Online Pharmacies Urea Cycle Disorders Treatment Market, By Region: North America Asia-Pacific Europe & CIS South America Middle East & Africa Key Topics Covered 1. Product Overview 2. Research Methodology 3. Impact of COVID-19 on Global Urea Cycle Disorders Treatment Market 4. Voice of Customer 5. Executive Summary 6. Global Urea Cycle Disorders Treatment Market Outlook 7. North America Urea Cycle Disorders Treatment Market Outlook 8. Europe Urea Cycle Disorders Treatment Market Outlook 9. Asia-Pacific Urea Cycle Disorders Treatment Market Outlook 10. South America Urea Cycle Disorders Treatment Market Outlook 11. Middle East and Africa Urea Cycle Disorders Treatment Market Outlook 12. Market Dynamics 13. Market Trends & Developments 14. Competitive Landscape 15. Strategic Recommendations For more information about this report visit About ResearchAndMarkets.com ResearchAndMarkets.com is the world's leading source for international market research reports and market data. We provide you with the latest data on international and regional markets, key industries, the top companies, new products and the latest trends. 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