Tay-Sachs Disease

AUBURN, Ala., March 26, 2024 /PRNewswire/ -- Auburn University is now home to the world's first field-installed, clinically approved Terra.X 7 Tesla magnetic resonance imaging scanner — expanding the window for cutting-edge research and public use. The $9 million Siemens MAGNETOM 7T, located in the Auburn University Samuel Ginn College of Engineering's Neuroimaging Center, was certified by the Food and Drug Administration for use on clinical patients and it provides superior imaging compared to the college's previous 7T research device. Additionally, with dedicated radiofrequency sodium imaging coils and parallel transmit technology, the scanner offers expanded imaging capabilities. "Today, we can say the best MRI scanner in the world is sitting here in the Research Park in Auburn," said Steve Taylor, senior vice president for research and economic development. "Impactful, multi-disciplinary research remains one of the foundations of our rich history as a university, and the door is now open to creative explorations into neuroscience that we, nor peer institutions, could previously pursue. I'm excited to watch researchers from across campus take advantage of this powerful resource." Predominant use of the new 7T will be for brain and knee imaging, with a clinical focus on better understanding epilepsy, multiple sclerosis and other disorders, said Thomas Denney, director of the Neuroimaging Center who also serves as the Bruce Donnellan and Family Professor in the Department of Electrical and Computer Engineering. "The university is sitting on a gold mine in terms of data and capabilities," Denney said. "This allows us to play in a sandbox that we couldn't play in before. Our vision is to become a leading center for MRI research with emphasis on brain imaging, cardiovascular imaging, and orthopedic imaging. These areas represent an intersection between the needs of the MRI research community, particularly in 7T imaging, and existing expertise and strengths of Auburn University. In terms of biomedical research, this is one of those things that takes us to that next level." New research explorations already under way include, but are not limited to: Meredith Reid, assistant professor in electrical and computer engineering, who is exploring post-traumatic stress disorder biomarkers in senior adults via spectroscopy. Jennifer Robinson, professor in psychological sciences in the College of Liberal Arts, who is comparing brain connectivity between healthy populations with mental illness with a focus on the interaction between cognition and emotions. Adil Bashir, associate professor in electrical and computer engineering, who is studying muscle and brain energy production capacity on the cells and determining mitochondrial metabolic homeostasis by utilization of phosphorus spectroscopy. Gopikrishna Deshpande, professor in electrical and computer engineering, who is examining how artificial intelligence can be used to predict brain disorders and human/animal behavior using information from brain networks obtained from MRI. Doug Martin, director of the Scott-Ritchey Research Center in the College of Veterinary Medicine and professor of Anatomy, Physiology & Pharmacology, who is measuring the effect of gene therapy for Tay-Sachs disease in animal models using magnetic resonance imaging and spectroscopy. "In addition to being able to provide opportunities for researchers like myself to study disorders and even brain connectivity at a new level, this new scanner also contributes to the fact that we can clinically assess people in different ways," said Robinson, principal investigator at the Auburn University Cognitive & Affective Neuroscience Laboratory. "It has tremendous impacts for folks with epilepsy or Parkinson's where we can do imaging that we couldn't do before. That's a tremendous asset for the state of Alabama and especially for our area. Those things, both the research aspect and the clinical aspect, make it a pivotal resource." The Center's previous 7T system, installed in 2012 and removed, was an investigational-only device, where subjects were scanned for research, not clinical, purposes. "There will be physicians who will want to send their patients here to be scanned on the new 7T," Denney said. "People have MRI scans to answer clinical questions. If a question can be answered with a 3T, then that respective hospital will more than likely have that equipment. But if the 3T does not answer the question — as our 7T provides deeper and clearer images — then those patients would benefit from our device." A stark difference between the old and new 7T scanners involve parallel transmit technology and sodium imaging capability. "With our old 7T system, if we did an MRI scan of the brain in certain regions, you wouldn't receive uniform coverage of the brain," Denney said. "That's because we had only one transmit channel, like a flashlight inside a large room with only one beam. By comparison, our new Terra.X 7T provides us with eight beams of light that illuminates the brain and provides a more uniform image." "Sodium imaging technology is also important because it can measure how much sodium is in your brain regionally. This allows us to identify abnormalities and study electrical signaling in the brain," Denney added. A gift from Auburn Engineering alumnus Thomas Walter, '55 engineering physics, and his wife, Jean, '57 education, paved the way for the addition of the new machine to the 45,000-square foot building, and, in turn, the university named the facility in his honor as the Thomas Walter MRI Research Building. "We are certainly honored and humbled to have alumni and friends like Tom and Jean Walter," said Mario Eden, dean of the Samuel Ginn College of Engineering. "If it wasn't for them, we wouldn't have the 7T, and we are indebted to them for their dedication and commitment to Auburn. Through this cutting-edge technology, we are fortunate to have the opportunity to show how we can utilize their generosity for the betterment of mankind through impactful research." View original content to download multimedia: SOURCE Auburn University-College of Engineering

Azafaros announces completion of 12-week Phase 2 RAINBOW study evaluating lead asset nizubaglustat in rare disease patients Major milestone reached in bringing new treatment options to patients and their families. Leiden, The Netherlands, March 12, 2024 – Azafaros B.V. today announced the completion of its 12-week Phase 2 clinical study, RAINBOW (Phase 2 RAINBOW studyNCT05758922). The randomized, double-blind, placebo-controlled study, conducted in Brazil, involved 13 patients from the age of 12 years who are affected by GM2 gangliosidosis or Niemann-Pick disease type C (NPC). The aim of the RAINBOW study is to determine the safety, pharmacodynamics, and pharmacokinetics of two different doses of nizubaglustat in patients, in order to identify the target dosage for Azafaros’ planned Phase 3 pivotal studies. The main part of the study is now complete, and patients are entering the extension phase, in which all of them will be given the study drug. Top line results of the RAINBOW study are expected to be announced in Q2 2024 and presented to the scientific community later this year. Prof. Dr. Roberto Giugliani, Chief of the Medical Genetics Clinical Research Group at the Hospital de Clinicas de Porto Alegre and Lead Principal Investigator for the study, said: “This is an important milestone because nizubaglustat has a dual mode of action that represents a leap forward from other agents. This dual activity targets some of the fundamental biology of the diseases with high potency and it might offer promise in pivotal studies.” Chris Freitag, Chief Medical Officer at Azafaros, said: “This is a major milestone on our journey to provide patients and their families with a potentially transformative treatment. With the RAINBOW data, we will be able to identify the optimal dose for a pediatric population in our Phase 3 efficacy study, which we plan to initiate as soon as the dose is determined, and the required approvals are in place. We are looking forward to presenting the data from RAINBOW to the scientific community. Azafaros is grateful to the patients and their families who made the decision to participate in this study.” About nizubaglustat Nizubaglustat is a small molecule, orally available and brain penetrant azasugar with a unique dual mode of action, developed as a potential treatment for rare lysosomal storage disorders with neurological involvement, including GM1 and GM2 gangliosidoses and Niemann-Pick disease type C (NPC). Nizubaglustat has received the following designations and support: United States Food and Drug Administration (FDA) Rare Pediatric Disease Designations (RPDD) for the treatment of GM1 and GM2 gangliosidoses and NPC. Orphan Drug Designations (ODD) for GM2 gangliosidosis (Sandhoff and Tay-Sachs Diseases) and NPC. Fast Track Designation and IND clearance for GM1 and GM2 gangliosidoses. European Medicines Agency (EMA) Orphan Medicinal Product Designation (OMPD) for the treatment of GM2 gangliosidosis. UK Medicines and Healthcare Products Regulatory Agency (MHRA) Innovation Passport for the treatment of GM1 and GM2 gangliosidoses. About GM1 and GM2 Gangliosidoses GM1 gangliosidosis and GM2 gangliosidosis (Tay-Sachs and Sandhoff diseases) are lysosomal storage disorders caused by the accumulation of GM1 or GM2 gangliosides respectively, in the central nervous system (CNS), resulting in progressive and severe neurological impairment and early death. These diseases mostly affect infants and children, and no disease-modifying treatments are currently available. About Niemann-Pick Disease Type C (NPC) Niemann-Pick disease type C (NPC) is a progressive, life-limiting neurological lysosomal storage disorder caused by mutations in the NPC1 or NPC2 gene and aberrant endosomal-lysosomal trafficking, leading to the accumulation of various lipids, including gangliosides in the CNS. The onset of disease can happen throughout the lifespan of an affected individual, from prenatal life through adulthood. About Azafaros Azafaros is a clinical-stage company founded in 2018 with a deep understanding of rare genetic disease mechanisms, a compound library from Leiden University, and led by a team of highly experienced industry experts. Azafaros aims to build a pipeline of disease-modifying therapeutics to offer new treatment options to patients and their families. By applying its knowledge, network and courage, the Azafaros team challenges traditional development pathways to rapidly bring new drugs to the rare disease patients who need them. Azafaros is supported by a syndicate of leading Dutch and Swiss investors including Forbion, BioGeneration Ventures, BioMedPartners, Asahi Kasei Pharma Ventures, and Schroders Capital. Media ICR Consilium Amber Fennell, Ashley Tapp +44 (0)20 3709 5700 Azafaros@consilium-comms.com

BOSTON, Feb. 1, 2024 /PRNewswire/ -- National Tay-Sachs & Allied Diseases Association (NTSAD), leader in the worldwide fight to treat and cure Tay-Sachs, Canavan, GM1, and Sandhoff diseases, is hosting the first-ever, Externally-Led Patient-Focused Drug Development (EL-PFDD) Meeting for GM2 gangliosidoses (Tay-Sachs and Sandhoff diseases) on February 15, 2024, 9:30am-3pm Eastern. EL-PFDD meetings give the U.S. Food and Drug Administration (FDA) and other key stakeholders, including medical product developers, health care providers, regulatory agencies, an important opportunity to hear from patients and their families about the symptoms that matter most to them, the impact the disease has on patients' daily lives and their experiences with currently available treatments. This input can inform FDA's decisions and oversight during drug development and their review of marketing applications. Nearly 30 people will share their stories and experiences with infantile, juvenile, or late onset GM2, including adult patients, parents, caregivers, and bereaved family members. Other presenters include Jacqueline Karp, MD, U.S. FDA Center for Drug Evaluation and Research; Florian Eichler, MD, Massachusetts General Hospital; Cynthia Tifft, MD, PhD, National Institutes of Health; and Kathleen Flynn, NTSAD CEO. "NTSAD was founded by families. They are the experts on living with these devastating rare, genetic diseases, and their voices should be heard," said NTSAD CEO Kathleen Flynn. This virtual meeting will be livestreamed via YouTube, open to the public, free to attend, but advance registration is required. There will be opportunities to call in, submit comments, or participate in live polling. To learn more about the GM2 EL-PFDD meeting, register to attend, or submit comments, visit . Meeting sponsors include Sanofi, Cure Tay-Sachs Foundation, New York Area Fund, Mathew Forbes Romer Foundation, Azafaros, and JCR Pharmaceuticals. About NTSAD One of the oldest patient advocacy organizations, NTSAD supports families and individuals globally through one-on-one support, mentoring and peer groups, information and resources, and its Annual Family Conference. NTSAD also advocates for patients and advances research. Since 2002, the organization has awarded more than $4.7 million in grants that attracted more than $30 million in research investments, leading to the development of potential therapies for Tay-Sachs, Canavan, GM1, and Sandhoff diseases. For more information, visit NTSAD.org. SOURCE National Tay Sachs and Allied Diseases Association Inc