Genethon to Present Its Latest Gene Therapy Research Advancements in Neuromuscular Diseases at the International Myology 2022 Congress

Genethon, a unique non-profit gene therapy R&D organization founded by the French Muscular Dystrophy Association (AFM-Telethon), announced today its scientists will make five oral presentations and display 18 posters of their latest research on neuromuscular diseases at the 7th International Myology Congress in Nice, France, September 12-15, 2022

Dedicated to advances in research and therapies on muscles and its diseases, the Myology 2022 Congress, organized by AFM-Téléthon, will bring together 600 scientists and international experts. Genethon, a specialist in neuromuscular diseases and pioneer in gene therapy for rare diseases, will be represented by 50 of its researchers and experts.

“The richness of the Myology 2022 program testifies to the dynamism of research in myology,” said Frédéric Revah, CEO of Genethon. “Genethon’s pipeline includes more than half a dozen gene therapy products for neuromuscular diseases. This congress will be an opportunity to take stock of the many recent advances, but also of the technological and medical obstacles that we must overcome to make these therapies accessible to all who need them.”

Five experts from Genethon were invited for oral interventions (all times are CEST).

Tuesday, September 13 – 2 p.m. – Young investigators symposium

>> “Novel AAV capsid variant for muscle-directed gene therapy” – Juliette Lemoine, PhD student in Isabelle Richard’s Progressive Dystrophies team, will present a method that aims to redirect the tropism of AAVs, vectors that deliver the functional gene in cells, to skeletal muscles by modifying their capsid. Making AAVs more specific, so that they essentially target tissues, a major area of research in gene therapy.

Tuesday, September 13 – 3 p.m. – Advances and challenges in gene therapy (Part 1)

This session, the first of two devoted to a debate of the broader field of challenges, particularly in terms of safety and efficacy, which remain to be met in gene therapy, will include two Genethon scientists, Serge Braun and Giuseppe Ronzitti. Dr. Braun will also serve as moderator.

>>“The management of safety of gene therapy of neuromuscular diseases, an emblematic example”- Serge Braun, head of neuromuscular strategy at Genethon, will discuss a unique example of collaboration. Faced with similar serious side effects in their clinical trials of gene therapy against Duchenne muscular dystrophy, several laboratories have collaborated and shared their data to identify the potential causes of the problems encountered. Thanks to the results obtained, new protocols have been proposed and trials have resumed.
>> “The liver as a model tissue to develop innovative solutions to the existing limitations of AAV gene therapy”. Giuseppe Ronzitti, head of the Immunology and Liver Diseases team, will review the role of the liver in gene therapy treatments. The liver toxicity of certain therapies can cause side effects. Giuseppe Ronzitti will come back to some recent examples and will also consider the solutions to be developed to solve these problems.

Wednesday, September 14, 2:30 p.m. – Advances and challenges in gene therapy (Part 2)

This session, the second of two exploring the challenges of developing gene therapies, will include Ana Buj-Bello, of Genethon.

>> “X-linked myotubular myopathy and liver dysfunction”. Ana Buj-Bello, head of the Neuromuscular diseases and gene therapy team, will discuss the links between myotubular myopathy and liver failure. Indeed, in 10% to 50% of cases, this neuromuscular disease is accompanied by liver abnormalities. The importance of hepatic comorbidity in ongoing clinical trials has recently been revealed. Ana Buj-Bello will present the current state of knowledge on the subject and will present the advances made on AAV vectors used for gene therapy of muscle diseases.

Thursday, September 15 – 10:30 a.m. Limb Girdle Muscular Dystrophies

>> “Preclinical development of a gene therapy for three prevalent forms of LGMD”. Isabelle Richard, head of the Progressive Dystrophies team and pioneer in limb girdle muscular dystrophy research, will provide an update on the development of gene therapies for certain forms of limb girdle muscular dystrophies. A product is currently being evaluated in a clinical trial for FKRP limb girdle muscular dystrophy. Preclinical development was carried out by Genethon, before being transferred to Atamyo, sponsor of the clinical trial. Two other products, for calpainopathy and for alpha-sarcoglycanopathy, are currently in advanced preclinical phase. Their clinical development will also be managed by Atamyo.

17 Genethon posters will also be presented during the Congress.

– RNAi silencing of GYS1 prevents glycogen accumulation in mouse models of Glycogen Storage Diseases – Fanny Collaud
– Quantitative phase imaging and tissue autofluoresence patterns for fibrosis assessment in skeletal muscle –Jérémie Cosette
– Characterization of neuromuscular junctions in mice using Gated-STED super-resolution nanoscopy – Jérémie Cosette
– Characterization and CRISPR-based treatment of DmdΔ45 rat model – Cynthia Daoud
– AV-mediated gene therapy of acid ceramidase deficiency – Jérôme Denard
– Characterization of pathological features in skeletal muscles of acid ceramidase deficient mice and correction by gene therapy – Marion Derome
– FKRP related Limb-Girdle Muscular Dystrophy: A biomarker identification study – Evelyne Gicquel
– AAV-mediated delivery of mutated myostatin propeptide is not sufficient to ameliorate the muscle phenotype of Acta1(H40Y) mice – Janek Hyzewicz
– Molecular mechanisms of metabolic perturbations in DMD – David Israeli
– Development of new in vitro models to study the pathogenicity of titin variants and therapeutic strategies in titinopathies – Fanny Lenglart
– AAVpo1.A1 vectors for gene transfer in muscles and spinal motoneurons – Louise Mangin
– Tailored gene therapy of spinal muscular atrophy by single-stranded AAV9 vectors – Martina Marinello
– Study of the efficacy of Dystrophin variants via split intein dual-AAVs approach – Laura Palmieri
– Role of spastin (SPG4) in mitochondrial-ER contact sites – Amélie Raby
– Peptide-displaying chimeric AAV vectors with increased skeletal muscle potency and liver detargeting for systemic gene therapy – Edith Renaud-Gabardos
– Automated cell segmentation of Hematoxylin-Eosin stained histopathological slices of skeletal muscle reveals phenotype improvement upon gene transfer in γ-Sarcoglycanopathy – Marie Reinbigler (Institut Polytechnique de Paris, Telecom Sud-Paris)
– Glycogen storage type III modeling using induced pluripotent stem cells – Lucille Rossiaud
– Dlk1-Dio3 cluster miRNAs regulate mitochondrial functions in the dystrophic muscle in Duchenne muscular dystrophy – Ai Vu Hong
For more conférence information please visit Myology 2022 programme