Crigler-Najjar Syndrome

PARIS--(BUSINESS WIRE)-- Genethon, a non-profit research organization focused on developing gene therapies for rare diseases, today marks International Rare Disease Day by highlighting its efforts to bring gene therapies to patients suffering from rare diseases such as limb girdle muscular dystrophies, Crigler Najjar syndrome and Duchenne muscular dystrophy. Globally more than 300 million people, most of them children, are living with 7,000 rare diseases. Eighty percent are genetic diseases and nearly 95% have no effective therapies. This places a heavy burden on health care systems, costing billions of dollars. Because patient populations are small, these diseases don’t readily fit into the biopharma industry’s business models. “I am happy to say that thousands of patients around the world already are benefitting from our research through traditional licensing agreements such as the one that led to the development of the first gene therapy approved in 2019 for spinal muscular atrophy,” said Frederic Revah, Ph.D., Genethon CEO. “However, after 30 years of pioneering gene therapies, we realized that we had to create different development strategies beyond licensing out to biopharma the discoveries made by our more than 200 dedicated scientists.” One of those strategies involves creating its first spinout, Atamyo Therapeutics, in 2020. Atamyo is developing gene therapies for limb girdle muscular dystrophies (LGMD). The gene therapies were designed by researchers in Genethon’s Progressive Dystrophies Laboratory under the leadership of Isabelle Richard, Ph.D., who is Atamyo’s Co-Founder & Chief Scientific Officer and Head of Progressive Muscular Dystrophies Team at Genethon. LGMD are a group of rare diseases and the fourth most common genetic cause of muscle weakness. It has more than 30 subtypes related to genetic mutations with an estimated worldwide prevalence of all forms ranging from one person in 14,500 to one person in 123,000. Led by CEO Stephane Degove, Atamyo is already conducting clinical trials in Europe for LGMD2I/R9 and is ready to initiate clinical trials for LGMD2C/R5. It has IND-enabling studies under way for a third, LGMD2A/R1; and the U.S. Food and Drug Administration has cleared Atamyo’s IND for clinical trials of LGMD2I/R9. Another strategy involves Genethon pursuing clinical development itself. Genethon is conducting pivotal trials for a gene therapy for Crigler Najjar syndrome, a life threatening liver disease. It would be the first-ever gene therapy for this ultra-rare disease which affects about 1 person (male or female) per 750,000 to 1 million people worldwide. The pivotal trials of the Crigler-Najjar gene therapy will attempt to confirm positive data from Phase 1/2 trials. If successful, the results could support regulatory filing in Europe in two years. A third strategy involves Genethon’s partnership with Sarepta Therapeutics of Cambridge, MA, for co-development of a gene therapy for Duchenne muscular dystrophy, a genetic disease resulting in progressive muscular degeneration and weakness. The disease affects mostly males and occurs in about 6 children per 100,000 in Europe and North America. Genethon’s collaboration with Sarepta involves co-development of the clinical gene therapy program and, under the terms of agreement, Genethon is responsible for commercializing the product GNT0004 in Europe (excluding the UK) and Sarepta is responsible for the rest of the world. Founded in 1990 by patients for patients, Genethon from the start has embraced a patient-centric drug development approach based on applying the most advanced science with a pledge of ensuring affordability to gene therapy medicines. “Despite challenges in generating interest with biopharma companies and investors, Genethon will never abandon patients suffering from rare and ultra-rare diseases,” said Dr. Revah. “Gene therapies have proved their curative potential, and we will continue to advance new clinical development and commercialization strategies to try to ensure all patients benefit from them.” About Genethon As a pioneer in the discovery and development of gene therapies for rare diseases, Genethon is a non-profit laboratory that was established by AFM-Telethon. A first gene therapy for spinal muscular atrophy to which Généthon contributed has obtained a product license. With more than 200 scientists and professional staff, Genethon is pursuing its aim to develop therapies which change the lives of patients suffering from rare genetic diseases. Thirteen products stemming from by Genethon’s R&D or from collaborations are in clinical trial for diseases of the liver, blood, immune system, muscles and eyes. Seven other products could enter clinical trials over the next five years. More information at . View source version on businesswire.com: Contacts U.S. Contact: Charles Craig Opus Biotech Communications 404-245-0591 charles.s.craig@gmail.com EU Contact: Stéphanie Bardon AFM-Téléthon Press Relation Manager +33 1 69 47 12 78 +33 6 79 34 15 68 SBARDON@afm-telethon.fr Source: Genethon View this news release online at:

CONCORD, Mass., Oct. 19, 2023 /PRNewswire/ -- Applied BioMath (), the industry-leader in providing model-informed drug discovery and development (MID3) support to help accelerate and de-risk therapeutic research and development (R&D), today announced their participation at AAPS 2023 PharmSci 360 occurring October 22-25, 2023 in Orlando, FL. Applied BioMath will participate in multiple presentations during the conference. Jamie Nosbisch, PhD, Principal Scientist, at Applied BioMath will present a poster titled, "Using a Semi-Mechanistic Model to Predict Efficacious Dosing Regimens and Optimal Drug Design Properties for a LNP-Delivered mRNA UGT1A1 Replacement Therapy in Crigler-Najjar Syndrome Type 1 Patients" on Monday, October 23rd from 12:30-1:30pm. Joshua Apgar, PhD, Co-founder and CSO at Applied BioMath will give a Speaker Spotlight presentation entitled, "Evolving Clinical Pharmacology and Translational PK/PD Approaches for New Modalities" on Tuesday, October 24th from 9:30-10:30am. Fei Hua, PhD, Vice President of Modeling and Simulation Services at Applied BioMath, who is a member of the scientific programming committee for the Preclinical and Translational Sciences Track will present a poster titled, "A Next Generation Mathematical Model for the In Vitro to Clinical Translation of T-Cell Engagers" on Monday October 23rd from 11:30-12:30pm. Dr. Hua will also moderate multiple presentations, including: Speaker Spotlight: Advances in Predictive Biomarkers for Drug Development on Monday, October 23rd from 2:30-3:30pm Keynote: Navigating Project Optimus: Use of Modeling and Simulation to Inform Dosing Strategies in Oncology on Tuesday, October 24th from 1:30-2:30pm Keynote: Predictive Drug Discovery Platforms on Wednesday, October 25th from 1:30-2:30pm Hot Topic: Understanding Data Needs for AI/ML Approaches During Preclinical Development on Wednesday, October 25th from 3:00-4:00pm "We are proud to present our science and participate in discussions surrounding the use of modeling and simulation approaches in therapeutic R&D," said John Burke, PhD, Co-founder, President and CEO of Applied BioMath. To learn more about Applied BioMath, visit . About Applied BioMath Founded in 2013, Applied BioMath's mission is to revolutionize drug invention. Applied BioMath applies biosimulation, including quantitative systems pharmacology, PKPD, bioinformatics, machine learning, clinical pharmacology, and software solutions to provide quantitative and predictive guidance to biotechnology and pharmaceutical companies to help accelerate and de-risk therapeutic research and development. Their approach employs proprietary algorithms and software to support groups worldwide in decision-making from early research through all phases of clinical trials. The Applied BioMath team leverages their decades of expertise in biology, mathematical modeling and analysis, high-performance computing, and industry experience to help groups better understand their therapeutic, its best-in-class parameters, competitive advantages, patients, and the best path forward into and in the clinic to increase likelihood of clinical concept and proof of mechanism, and decrease late stage attrition rates. For more information about Applied BioMath and its services and software, visit . Applied BioMath and the Applied BioMath logo are registered trademarks of Applied BioMath, LLC. Press contact: Kristen Zannella kristen.zannella@appliedbiomath.com SOURCE Applied Biomath

Jenna Philpott Japan is the second country to gain approval after the US gained traditional approval for the drug in July 2023. Credit: Ralf Liebhold via www.shutterstock.com. Eisai and BioArctic have received approval for the Alzheimer’s disease drug Leqembi (lecanemab-irmb) in Japan, making it the second country to gain access to the treatment. Leqembi is a monoclonal antibody that targets and reduces insoluble amyloid-beta (Aβ) forms in the brain. It is the first and only approved treatment that has demonstrated a reduction in the rate of disease progression in patients with Alzheimer’s. Recommended Reports Reports LOA and PTSR Model - Aspirin in Mucocutaneous Lymph Node Syndrome (Kawasaki Disease) GlobalData Reports LOA and PTSR Model - Mevidalen Hydroxybenzoate in Lewy Body Dementia GlobalData View all Companies Intelligence Eisai Co Ltd BioArctic AB View all The Japanese approval unlocked a milestone-based payment of EUR 17m ($18m) to BioArctic. The approval is based on Phase III data from the Clarity AD trial (NCT03887455) led by Eisai that showed that treatment with Leqembi reduced clinical decline in patients by 27% at 18 months compared to the placebo. The prescribing information for Leqembi includes a warning for amyloid-related imaging abnormalities (ARIAs), a concern for Alzheimer’s patients taking certain medication. Last week, BrainScope announced an investment from the Alzheimer’s Drug Discovery Foundation (ADDF) to pursue the development of a biomarker that could detect ARIAs in to reduce the number of magnetic resonance imaging (MRI) scans required for patients who suffered a concussion. Leqembi was awarded a full traditional approval in the US in July 2023. Co-founder of BioArctic and inventor of Leqembi Professor Lars Lannfelt said, in a statement to Pharmaceutical Technology , “The approval of Leqembi, first in the USA and now in Japan, is a paradigm-shifting step in the fight against Alzheimer’s disease.” According to GlobalData, the AD market in Japan will be worth $957.7M in 2030, with Leqembi being the highest selling drug, generating $204.3 million in sales. GlobalData is the parent company of Pharmaceutical Technology.