Cholesterol Ester Storage Disease

AstraZeneca's rare disease unit has received a recommendation from the National Institute for Health and Care Excellence (NICE) for the use of its enzyme replacement therapy in infants with Wolman disease. Alexion’s Kanuma (sebelipase alfa), which has been specifically recommended for use in patients who are aged two years or younger when administration begins, will now become the first treatment available on the NHS for the rapidly-progressive rare genetic disease. Occurring in around one in 350,000 births, Wolman disease causes a build-up of fat in cells in the liver, heart, blood vessels and digestive system. Symptoms in infants include enlarged liver and spleen, poor weight gain, low muscle tone, jaundice, vomiting, diarrhoea, developmental delay and anaemia. Until now, standard care for the disease has been palliative and limited to managing symptoms, with patients normally not surviving past the age of one without treatment. Administered as weekly intravenous infusions which can be given at home alongside a restricted low-fat diet, Kanuma works by replacing an enzyme missing in the body. Some patients may also have a blood and marrow/stem cell transplant. NHS chief executive, Amanda Pritchard, said: “I am delighted the NHS can now, for the first time, offer a life-changing treatment to families facing this enormously difficult condition. “Where previously there were no treatments available for infants facing this debilitating disease, this new therapy could save families from facing indescribable grief and allow more children… to grow up, go to school and live normal lives.” The therapy will now be fast-tracked via NHS England’s Innovative Medicines Fund to enable routine patient access up to five months earlier than would otherwise be the case. Sean Richardson, vice president and general manager, Alexion, UK, described NICE’s decision as a “milestone moment for infants born with Wolman Disease and their families”. He continued: “The recommendation is the result of continued constructive collaboration between Alexion, NICE, NHS England, patient groups and the medical community, to ensure babies born with this life-threatening disease have a treatment available to them.”

LOS ANGELES, Aug. 14, 2023 (GLOBE NEWSWIRE) -- Solve GNE announced today that it has entered into a sponsored research agreement with Genosera to provide funding for a novel Adeno-Associated Virus (AAV) gene therapy aimed at curing GNE Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM). GNE Myopathy is a genetic disorder characterized by muscle weakness that starts in early adulthood. The progression of the disease varies among patients but generally starts in the leg muscles and eventually leads to complete loss of mobility. Although this is a rare disorder, its incidence is remarkably high among Iranians of Jewish decent, where it’s estimated that 10-15% of the population carry at least a single copy of the M743T point mutation. Gidon Akler, MD, and Paul T. Martin, PhD, co-founded Genosera in 2019 with the goal of developing new gene therapy treatments for patients with rare genetic disorders. The company has a particular focus on genetic diseases that are common in members of the Iranian Jewish community, including GNE myopathy and Lysosomal Acid Lipase Deficiency. Genosera is developing novel bicistronic, or two gene, AAV treatments for muscle diseases. Such therapies will, for the first time, provide the possibility of stopping disease progression and also reversing pre-existing muscle disease. Together with Solve GNE, Genosera will work to develop the first bicistronic gene therapy treatment for GNE myopathy patients. Genosera’s product pipeline comes from research done in Dr. Martin’s laboratory in the Center for Gene Therapy at the Abigail Wexner Research Institute at Nationwide Children’s Hospital in Columbus Ohio. Alexander Monsef of Solve GNE commented, “The Center for Gene Therapy at Nationwide Children’s Hospital (NCH) has a distinguished record of research in gene therapy and its scientists have played a major role in the development of landmark therapies like Zolgensma for Spinal Muscular Atrophy, and Elevidys for Duchenne Muscular Dystrophy. Solve GNE is proud to be collaborating with Genosera and NCH towards finding a cure for GNEM.” About Solve GNE Solve GNE is a Los Angeles based non-profit organization focused on developing a cure for GNE Myopathy (or HIBM). Solve GNE has been actively raising funds to support research and development of various gene therapies that are poised to enter human clinical trials in the next 12-18 months. For more information, visit About Genosera Founded in 2019, Genosera is a privately held, gene therapy biotechnology company that focuses on various rare genetic diseases such as GNEM, Lysosomal Acid Lipase Deficiency (LAL-D) and Limb-girdle muscular dystrophy type 2I (LGMD2I). For more information, visit Forward-Looking Statements This press release contains forward-looking statements, including, without limitation, statements regarding the success, cost, and timing of our product development activities and clinical trials, our plans to research, develop, and commercialize our product candidates, and our plans to submit regulatory filings and obtain regulatory approval of our product candidates. These forward-looking statements are based on Genosera’s current expectations and assumptions. Because forward-looking statements relate to the future, they are subject to inherent uncertainties, risks, and changes in circumstances that may differ materially from those contemplated by the forward-looking statements, which are neither statements of historical fact nor guarantees or assurances of future performance. Important factors that could cause actual results to differ materially from those in the forward-looking statements include but are not limited to: (a) the timing, costs, and outcomes of our clinical trials and preclinical studies, (b) the timing and likelihood of regulatory filings and approvals for our product candidates, and (c) the potential market size for our product candidates. These forward-looking statements speak only as of the date made and, other than as required by law, we undertake no obligation to publicly update or revise any forward-looking statements. This press release does not constitute an offer to sell, or a solicitation of an offer to buy, any securities. Contact: Alexander Monsef – 310-913-3418 – AlexM@solvegne.org

Genethon is a leader in developing gene therapies for rare and ultra-rare diseases PARIS, FRANCE (May 10, 2023) – Genethon, a unique non-profit gene therapy R&D, announced today its research will be featured in 4 oral presentations and 10 posters at the 26th Annual Meeting of the American Society of Gene and Cell Therapy (ASGCT), May 16-20, 2023, at the Los Angeles Convention Center in Los Angeles, CA. The international convention attracts thousands of scientists, physicians, patient advocates and government officials. “We are proud to report some of our most recent progress, covering the advancement of novel gene therapy candidates for multiple rare genetic diseases, and the design of novel vectors and tools,” said Frederic Revah, Genethon CEO. “The objective of Genethon’ scientists is to pursue research of excellence allowing more and more patients with rare genetic diseases to benefit from the treatments they need.” Genethon’s Ana Buj Bello, M.D., Ph.D., MBA, leader of the Neuromuscular Diseases and Gene Therapy Team, is co-chair of the oral abstract session on AAV Vectors – Clinical/Nonhuman primate studies, Wednesday, May 17, 3:45 pm – 5:30 pm US PDT (Rm 411). Dr. Buj Bello also is presenting a poster titled, AAV-mediated gene therapy corrects the severe phenotype of acid ceramidase deficient mice (Board No. 15918), Friday, May 19, 12 pm – 2 pm US PDT. Genethon has four scientists participating in the following oral poster presentation sessions (all times are US PDT): Wednesday, May 17 AAV Vectors – Preclinical and Proof-of-Concept In Vivo Studies I (3:45 pm – 5:30 pm) Rm 408 AB More Than Nine Year Survival of a GRMD Dog after Injection of AAV-Microdystrophin Gene Therapy (4:15 pm – 4:30 pm) – Caroline Le Guiner Thursday, May 18 Metabolic, Storage, Endocrine, Liver and Gastrointestinal Diseases I (1:30 pm to 3:15 pm) Rm 403 AB Single AAV vector gene therapy with a mini-GDE transgene corrects muscle impairment in mouse, rat and human cellular models of glycogen storage disease Type III (3 pm – 3:15 pm) – Antoine Gardin Novel Genetic Approaches for Muscle Diseases (3:35 pm – 5:30 pm) Rm 408 AB Development of MYOrganoids for therapeutic evaluation of gene therapy product in Duchenne Muscular Dystrophy (4:30 pm – 4:45 pm) – Laura Palmieri Saturday, May 20 AAV Development for Eye, Muscle, Kidney and CNS (8 am – 9:45 am) Concourse Hall 150 & 151) An integrin-targeting AAV developed by a novel computational rational design methodology presents an improved targeting to the skeletal muscle and reduced tropism to the liver (9:25 am to 9:42 am) – Ai Vu Hong In addition, Dr. Hong, a member of Genethon’s Progressive Muscular Dystrophies Team, received two ASGCT awards: one for Excellence in Research, which recognizes the top 10 – 15 posters submitted by students and fellows; and the other a Meritorious Abstract Travel Award given to associate members based on their high abstract scores. The following are poster presentations by Genethon scientists (all times are US PDT): Wednesday, May 17, 12 pm – 2 pm Extreme Inter-Individual Variability of Subretinal AAV-Induced Immune Response Even in a Highly Standardized Context [Board No. 721] – Duohao Ren and Sylvain Fisson Assessment of Therapeutical Potential and Advantage of a Dual AAV Approach for Duchenne Muscular Dystrophy [Board No. 663] – Sonia Albini In Vivo Gene Therapy for Lysosomal Acid Lipase Deficiency [Board No. 643] - Marine Laurent Characterization and Quantification of CRISPR/Cas9-Induced Genomic Alterations and AAV Targeted Integration in Human HSPC [Board No. 527] Alexandra Tachtsidi Thursday, May 18, 12 pm – 2 pm Evaluation of Gene Transfer Efficiency in a Mild Model of Dystrophic Muscle Disorder Performed by Machine Learning and Linear Discriminant Analysis [Board No. 1214] – Anthony Brureau Cardiomyocyte Death after AAV Gene Transfer Can Be Related to Proteotoxicity or to Transgene Abnormal Function or Localization [Board No. 884] – Isabelle Richard Predictive Potential of Single Deleterious Variations to Infer on AAV2 and AAV2-13 Capsids Viability [Board No. 874] – Tiziana La Bella Friday, May 19, 12 pm – 2 pm Autophagy Induction Improves Dual AAV Vector Efficacy in a Mouse Model of Glycogen Storage Disease Type III [Board No. 1396] – Louisa Jauze Preliminary Results from a Prospective, Multicentric, Follow Up Standardized Cohort to Assess Natural History of Duchenne Muscular Dystrophy [Board No. 1603] – Fei Cao About Genethon A pioneer in the discovery and development of gene therapies for rare diseases, Genethon is a unique non-profit organization created by a patient association, the AFM-Telethon. A first gene therapy drug, to which Genethon contributed, has obtained marketing for spinal muscular atrophy. With 200+ scientists and professionals, Genethon is pursuing its mission to bring life-changing therapies to patients suffering from rare genetic diseases. 13 products resulting from Genethon’s research are in clinical trials for eye, liver, blood, immune system and muscle diseases. A further6 products are in the preparation phase for clinical trials over the next five years. Find out more: genethon.com Contact: Charles Craig Opus Biotech Communications 404-245-0591 charles.s.craig@gmail.com