Gangliosidoses, GM2

NPC is a progressive disease where the patient has a mutation in NPC1 or NPC2 – genes that are involved in the processing of cholesterol and other lipids inside cells. Cells with this mutation have a faulty management of lipids, leading to organ damage and neurological symptoms including difficulty with speech and cognition. Delivered as an oral treatment three times per day, Miplyffa boosts the activity of two proteins in the cell called transcription factors EB (TFEB) and E3 (TFE3). These proteins upregulate genes encoding proteins that help lipids within cells to return to healthy levels. Miplyffa is specifically approved for use in combination with miglustat, a drug that is used off-label to treat NPC in around 80% of patients in the U.S. Miplyffa was approved based on results from a phase 2 trial where the drug slowed the progression of NPC compared to patients given a placebo. The company plans to launch the drug within 12 weeks of its approval and expects to set an average price of $85,000 per month for each patient, said president and CEO of Zevra Therapeutics Neil McFarlane in a public conference call ​. At the same time, Zevra launched a patient support program called AmplifyAssist to help patients and carers with personalized insurance coverage education and assistance with finding funding for their needs. “The FDA approval of Miplyffa marks a significant moment for those living with NPC and the global NPC community,” stated ​ Elizabeth Berry-Kravis, professor at Rush University Medical Center, who worked with Zevra to research Miplyffa use in a real-world setting. She added that effective NPC treatment “requires multiple treatment options due to the complexity of the disease” and that “patients will now have more access to treatments to tackle this devastating disease.” googletag.cmd.push(function () { googletag.display('text-ad1'); }); Arimoclomol was previously developed by the Danish company Orphazyme, which rose to fame ​ in 2021 as a so-called ‘meme’ stock whose price was influenced by social media. In the same year, Orphazyme was slapped with a rejection of arimoclomol from the U.S. FDA in 2021, with the regulator requesting more data. Grappling with bankruptcy, Orphazyme sold its assets to Zevra (then known as KemPharm) in 2022 ​ for $12.8 million. Another candidate in development is IntraBio’s small molecule therapy which is being reviewed by the U.S. FDA with a decision expected in the coming days. And the Dutch company Azafaros is taking its candidate nizubaglustat into phase 3 testing in patients with a genetic diagnosis of either GM2 gangliosidosis or NPC next year ​.

BALLERUP, Denmark--( BUSINESS WIRE )-- NOT FOR UK USE – NOT INTENDED FOR UK MEDIA LEO Pharma A/S, a global leader in medical dermatology, today announced that the European Commission (EC) has granted marketing authorization for Anzupgo ® (delgocitinib) cream for the treatment of adult patients with moderate to severe chronic hand eczema (CHE) for whom topical corticosteroids are inadequate or inappropriate. 1 The EC approval is valid in all European Union Member States, Iceland, Norway, and Liechtenstein. 1 This news is the latest in a series of regulatory milestones globally. Today LEO Pharma also announced that the FDA has accepted for filing LEO Pharma’s New Drug Application (NDA) for delgocitinib cream in the United States. “ We are dedicated to advancing the standard of care for those living with skin conditions, and this long-awaited milestone for Anzupgo demonstrates our purpose in practice ,” said Christophe Bourdon, Chief Executive Officer, LEO Pharma. “ This approval provides a new treatment option for patients, and we look forward to coordinating the next steps required to provide Anzupgo to those patients who need it.” Anzupgo is a topical pan-JAK inhibitor for the treatment of moderate to severe CHE. It inhibits the activation of JAK-STAT signaling, which plays a key role in the pathogenesis of CHE. 6 Currently, there are no other topical treatments specifically approved for adults with moderate to severe CHE for whom topical corticosteroids are inadequate or inappropriate. “ This approval is the culmination of years of focus and effort, driven every day by the goal to support this patient population,” said Kreesten Meldgaard Madsen, Chief Development Officer, LEO Pharma. “ The new treatment option aims to support the management of this debilitating condition, given the limited treatment options for CHE currently approved across Europe”. CHE is a heterogeneous, fluctuating, inflammatory skin disease with key symptoms of itch and pain. Its pathophysiology is characterized by skin barrier dysfunction, skin inflammation, and skin microbiome alterations. 7 The condition can have a high psychological, social, and occupational burden. 8-10 The approval for Anzupgo is based on results from the phase 3 program, which includes the DELTA 1 and DELTA 2 clinical trials that evaluated the safety and efficacy of Anzupgo compared to cream vehicle. 2-4 Both trials met their primary and all secondary endpoints. 11,12 Subjects who completed the 16-week DELTA 1 or DELTA 2 trials were immediately offered to enroll in the 36-week DELTA 3 open-label extension trial. 5 About Anzupgo ® (delgocitinib) cream Anzupgo ® (delgocitinib) cream is a topical pan-Janus kinase (JAK) inhibitor for the treatment of moderate to severe CHE. It inhibits the activation of JAK-STAT signaling, which plays a key role in the pathogenesis of CHE. 6 The pathophysiology is characterized by skin barrier dysfunction, inflammation of the skin, and alterations of the skin microbiome. 7 Anzupgo is currently approved in the European Union for the treatment of moderate to severe chronic hand eczema (CHE) in adults for whom topical corticosteroids are inadequate or inappropriate. In 2014, LEO Pharma A/S and Japan Tobacco Inc. (JT) entered into a license agreement in which LEO Pharma gained exclusive rights to develop and commercialize delgocitinib cream for topical use in dermatological indications worldwide, excluding Japan, where JT retains rights. About the DELTA 1, 2 and 3 Trials The primary objective for the randomized, double-blind, vehicle-controlled, multi-center phase 3 clinical trials (DELTA 1 and DELTA 2) was to evaluate the efficacy of twice-daily applications of Anzupgo compared with cream vehicle in the treatment of adults with moderate to severe CHE. 2-4 The primary endpoint of the trials was the Investigator’s Global Assessment for chronic hand eczema treatment success (IGA-CHE TS) at Week 16. Treatment success was defined as an IGA-CHE score of 0 (clear) or 1 (almost clear) with at least a two-step improvement from baseline. Additional IGA-CHE scores included 2 (mild), 3 (moderate), and 4 (severe). 2-4 Key secondary endpoints at Week 16 included reduction of itch and pain scores of ≥4 points measured by the Hand Eczema Symptom Diary (HESD) from baseline to Week 16, as well as at least 75% improvement from baseline and at least 90% improvement from baseline on the Hand Eczema Severity Index (HECSI) at Week 16. The number of treatment-emergent adverse events from baseline to Week 16 defined the key safety endpoint of the trials. 2-4 Subjects who completed 16 weeks of treatment with Anzupgo or cream vehicle twice daily in trials DELTA 1 or DELTA 2 were offered to roll-over to the DELTA 3 Open-label, Multi-site Extension trial. The purpose of this extension trial was to evaluate the long-term safety of Anzupgo. 5 About Chronic Hand Eczema Chronic Hand Eczema (CHE) is defined as hand eczema (HE) that lasts for more than three months or relapses twice or more within a year. 13,14 HE is the most common skin disorder of the hands 15 with a prevalence rate of approximately 4.7%. 16 In a substantial number of patients, HE can develop into a chronic condition. 15 CHE is a fluctuating disorder characterized by itch and pain, and patients may experience signs such as erythema, scaling, lichenification, hyperkeratosis, vesicles, edema, and fissures on hands and wrists. 8 CHE has been shown to cause psychological and functional burdens that impact patient quality of life, 9 with approximately 70% of individuals who live with severe CHE admitting to problems in performing everyday activities, and suffering disruption in their daily life due to the condition. 17 Furthermore, careers and earning potential have also been shown to be impacted by the burden of living with CHE. 18 About LEO Pharma LEO Pharma is a global company dedicated to advancing the standard of care for the benefit of people with skin conditions, their families and society. Founded in 1908 and majority owned by the LEO Foundation, LEO Pharma has devoted decades of research and development to advance the science of dermatology, and today, the company offers a wide range of therapies for all disease severities. LEO Pharma is headquartered in Denmark with a global team of 4,200 people, serving millions of patients across the world. In 2023, the company generated net sales of DKK 11.4 billion. References Anzupgo ® (delgocitinib) cream. Summary of Product Characteristics. LEO Pharma; September 2024. ClinicalTrials.gov. National Library of Medicine (U.S.). Efficacy and Safety of Delgocitinib Cream in Adults With Moderate to Severe Chronic Hand Eczema (DELTA 1). Identifier: NCT04871711. https://clinicaltrials.gov/ct2/show/NCT04872101 . ClinicalTrials.gov. National Library of Medicine (U.S.). Efficacy and Safety of Delgocitinib Cream in Adults With Moderate to Severe Chronic Hand Eczema (DELTA 2). Identifier: NCT04872101. https://clinicaltrials.gov/ct2/show/NCT04872101 . Bissonnette R, Warren RB, Pinter A, et al. Efficacy and safety of delgocitinib cream in adults with moderate to severe chronic hand eczema (DELTA 1 and DELTA 2): results from multicentre, randomised, controlled, double-blind, phase 3 trials. Lancet. 2024;404(10451):461-473. doi:10.1016/S0140-6736(24)01027-4. ClinicalTrials.gov. National Library of Medicine (U.S.). Open-label Multi-site Extension Trial in Subjects Who Completed the DELTA 1 or DELTA 2 Trials (DELTA3). Identifier: NCT04949841 https://clinicaltrials.gov/ct2/show/NCT04949841 . Dubin C, Del Duca E, Guttman-Yassky E. Drugs for the Treatment of Chronic Hand Eczema: Successes and Key Challenges. Ther Clin Risk Manag. 2020;16:1319-1332. Erratum in: Ther Clin Risk Manag. 2021 Mar 18;17:233. Lee GR, Maarouf M, Hendricks AK, Lee DE, Shi VY. Current and emerging therapies for hand eczema. Dermatol Ther. 2019;32(3):e12840. Thyssen JP, Schuttelaar MLA, Alfonso JH, et al. Guidelines for diagnosis, prevention, and treatment of hand eczema. Contact Dermatitis. 2022;86(5):357-378. Grant L, Seiding Larsen L, Burrows K, et al. Development of a Conceptual Model of Chronic Hand Eczema (CHE) Based on Qualitative Interviews with Patients and Expert Dermatologists. Adv Ther. 2020;37(2):692-706. Thyssen JP, Silverberg JI, Guttman-Yassky E. Chronic hand eczema understanding has ramifications on clinical management. J Eur Acad Dermatol Venereol. 2020;34(8):e429-e430. Schliemann S, et al. Efficacy and safety of delgocitinib cream in adults with moderate to severe chronic hand eczema: results of the Phase 3 DELTA 2 trial. Presented at the European Academy of Dermatology and Venereology (EADV) Congress 2023. Berlin, Germany. 11– 14 October. Poster Presentation #P0395. Bissonnette R, et al. Efficacy and safety of delgocitinib cream in adults with moderate to severe chronic hand eczema: results of the Phase 3 DELTA 1 trial. Presented at the European Academy of Dermatology and Venereology (EADV) Congress 2023. Berlin, Germany. 11– 14 October. Poster Presentation #P0369. Lynde C, Guenther L, Diepgen TL, et al. Canadian hand dermatitis management guidelines. J Cutan Med Surg. 2010;14(6):267-284. Erratum in: J Cutan Med Surg. 2011 Nov-Dec;15(6):360 Diepgen TL, et al. Guidelines for diagnosis, prevention and treatment of hand eczema. J Dtsch Dermatol Ges. 2015 Jan;13(1):e1–22. Bissonnette R, Diepgen TL, Elsner P, et al. Redefining treatment options in chronic hand eczema (CHE). J Eur Acad Dermatol Venereol. 2010;24 Suppl 3:1-20. Apfelbacher C, Bewley A, Molin S, et al. Prevalence of Chronic Hand Eczema in adults: A cross-sectional multi-national study of 60,000 respondents in the general population. Presented at the 2024 European Society of Contact Dermatitis (ESCD) congress; September 04-07 2024; Dresden, Germany. Poster presentation #3 Cortesi PA, Scalone L, Belisari A, et al. Cost and quality of life in patients with severe chronic hand eczema refractory to standard therapy with topical potent corticosteroids. Contact Dermatitis. 2014;70(3):158-168. Voorberg AN, Loman L, Schuttelaar MLA. Prevalence and Severity of Hand Eczema in the Dutch General Population: A Cross-sectional, Questionnaire Study within the Lifelines Cohort Study. Acta Derm Venereol. 2022;102:adv00626. MAT-76332 September 2024

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