Tay-Sachs Disease

AUBURN, Ala., Sept. 16, 2024 /PRNewswire/ -- Gopikrishna Deshpande wants to see the brain in action. How does information between billions of neurons flow within this cerebral superhighway? What functional details impact decision-making or even clinical disorders such as autism or Alzheimer's? Continue Reading The new 7T MRI will allow Auburn University to leverage its existing expertise in engineering, sciences and veterinary medicine to improve health care in the state and beyond. Now, he can. The recently approved $9 million Siemens MAGNETOM Terra.X 7 Tesla (7T) magnetic resonance imaging (MRI) scanner inside the Auburn University Neuroimaging Center takes researchers to places they've never been and provides them with detailed, ultra-high-resolution images they previously could not study. The world's first field-installed, clinically approved parallel transmit 7T MRI scanner complements the center's 3T scanner, part of its original equipment that's still used today. "3T scanners are standard in clinical practice today, and you get a fairly good view of what's happening in the brain — but you miss a lot of the details," said Deshpande, a professor of electrical and computer engineering, who specializes in signal/image processing. "Because the brain is such a complex organ with billions of neurons and trillions of connections, the devil is in the details. As researchers, we want to have as much detailed depiction, with high-resolution images, as possible." For Auburn, installing the powerful whole-body Terra.X 7 Tesla scanner was … a no-brainer. "The university is sitting on a gold mine in terms of data and capabilities," said Thomas Denney, director of the Auburn University Neuroimaging Center and the Mr. & Mrs. Bruce Donnellan & Family Endowed Professor in the Department of Electrical and Computer Engineering. "This machine puts us on the map in the MRI universe, and it allows us to play in a sandbox that we couldn't play in before." Denney said updated scanners like this are fitted with parallel transmit technology and sodium imaging capability. "With our old 7T, 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 7 provides us with eight beams of light that illuminate the brain and provide a more uniform image. Sodium imaging technology is important because it can measure how much sodium is in your brain regionally and identify abnormalities." Denney noted that Auburn researchers, many whom have already utilized the center's previous 7T and 3T equipment, will take advantage of this new avenue. Fresh research explorations already underway include: Meredith Reid, assistant professor in electrical and computer engineering, is exploring post-traumatic stress disorder biomarkers in senior adults via spectroscopy. Jennifer Robinson, professor in psychological sciences, compares brain connectivity between healthy populations and those with mental illness, focusing on cognition and emotions. Adil Bashir, associate professor in electrical and computer engineering, is studying muscle and brain energy production capacity on the cells and determining mitochondrial metabolic homeostasis using phosphorus spectroscopy. Doug Martin, director of the Scott-Ritchey Research Center and professor of anatomy, physiology and pharmacology at the College of Veterinary Medicine, is using MRI and spectroscopy to measure the effect of gene therapy for Tay-Sachs disease in animal models. "I dreamed of building an MRI research program here at Auburn where large medical centers recognize our contributions," Denney said. "Through research, Auburn University has moved the needle and more than exceeded my expectations. Since opening the Thomas Walter MRI Research Building in 2010, we've been able to double our staff. Those machines are great, but people are the ones who write research papers, and people are the ones who earn those research grants." People like Deshpande. "MRI research has come a long way — and it will continue to evolve," Deshpande said. "I'm proud that Auburn University is a leading player in this field as my colleagues and myself continue to explore the unexplored, explain the unexplained and provide impactful research to improve the quality of life for all." SOURCE Auburn University WANT YOUR COMPANY'S NEWS FEATURED ON PRNEWSWIRE.COM? 440k+ Newsrooms & Influencers 9k+ Digital Media Outlets 270k+ Journalists Opted In GET STARTED

LEIDEN, Netherlands--( BUSINESS WIRE )--Azafaros has announced that data from the ongoing double-blind, placebo-controlled Phase 2 RAINBOW study investigating its lead asset, nizubaglustat in patients with Niemann-Pick disease type C (NPC) or GM2 gangliosidosis, were presented at the Society for the Study of Inborn Errors of Metabolism (SSIEM) annual symposium in Porto, Portugal. The results of part one of the study, designed to determine the safety, pharmacodynamics, and pharmacokinetics of the Company’s lead asset nizubaglustat, demonstrated the compound had a positive safety profile and was well-tolerated in the 13 participants in the study. All patients are now enrolled in the extension phase of the trial, where initial unblinded data on 10 patients showed 8 had improved or stabilized SARA (Scale for the Assessment and Rating of Ataxia) scores. Additionally, a reduction in seizure frequency was observed for the participants who had experienced daily seizures before recruitment into the study. Data from the RAINBOW study will be used to inform the target dose for Azafaros’ planned Phase 3 pivotal studies, due to be initiated 2025. At the conference, Azafaros also presented 12-month follow-up data from the company’s PRONTO trial, a natural history study of late-infantile/juvenile GM1 and GM2 gangliosidoses. PRONTO is the largest prospective natural history study of these two rare diseases, providing valuable insights for the further development of nizubaglustat in GM1 and GM2 and for the gangliosidoses research community in general. Stefano Portolano , MD, CEO of Azafaros, said: “ The RAINBOW trial results support the positive safety profile of nizubaglustat and provide us with encouraging early efficacy trends for the compound. We greatly appreciate the opportunity to discuss these data with the scientific community at the SSIEM annual symposium, and believe our compound offers a potential new solution to patients with rare lysosomal storage disorders with neurological involvement where there is a strong unmet medical need. We look forward to using the insights provided by results from both RAINBOW and PRONTO to keep the strong momentum of our clinical program and move the compound into pivotal trials next year .” Azafaros is thankful to the patients and their families for their participation in the RAINBOW study. Ends About the RAINBOW study The RAINBOW trial is a Phase 2 clinical study designed to evaluate safety, tolerability, pharmacokinetics and pharmacodynamics of AZ-3102 (nizubaglustat) in patients with GM2 and Niemann-Pick type C (NPC) diseases. The study was conducted across three sites in Brazil, involving 13 patients older than 12 years of age. In the first part of the study patients were randomized to receive either a high dose or low dose of nizubaglustat or placebo. All patients continued into the second part of the study where they are randomized to receive either high or low dose nizubaglustat for 52 weeks. About the PRONTO study The PRONTO study is a prospective natural history study designed to assess the progression of neurological disease in late-infantile and juvenile GM1 and GM2 gangliosidoses. The study includes participants with a late-infantile/juvenile form, genetic diagnosis, and who are between 2 and 20 years old and the main objective was to provide insight and understanding of disease progression using clinical scales, caregiver questionnaires, and actigraphy. A total of 30 participants were recruited from 6 countries with at least 12-month follow-up data on 21 participants. 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. IND Clearance and Fast Track Designation for GM1/GM2 gangliosidoses and NPC 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 by scientists with a deep understanding of rare genetic disease mechanisms, using discoveries made by scientists at Leiden University and Amsterdam UMC. Azafaros is led by a team of highly experienced industry experts and aims to build a pipeline of disease-modifying therapeutics to offer new treatment options to patients and their families. The Azafaros team is dedicated to rapidly bring new drugs to the rare disease patients who need them. The company is supported by a syndicate of leading investors including Forbion, BioGeneration Ventures (BGV), BioMedPartners, Asahi Kasei Pharma Ventures, and Schroders Capital.

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