Limb-Girdle Muscular Dystrophy Type 2I/R9: first gene therapy results
The first clinical results of the gene therapy for the treatment of limb-girdle muscular dystrophy type 2I/R9 show good preliminary efficacy and biological tolerability. These first results have been presented during oral communications during the 30th Annual Congress of the European Society of Gene & Cell Therapy (ESGCT) and will be presented in the 2023 International Limb-Girdle Muscular Dystrophy Conference in Washington DC.
The trial, conducted in Denmark, France and the United Kingdom by Atamyo Therapeutics, a biopharma focused on the development of a new generation of effective and safe gene therapies for muscular dystrophies and cardiomyopathies, has shown encouraging initial results.
ATA-100, a single-administration gene therapy candidate for LGMD2I/R9, delivers a normal copy of the gene for production of FKRP proteins. The therapy is based on the research of Atamyo Chief Scientific Officer Isabelle Richard, Ph.D., Research Director at CNRS who heads the Progressive Muscular Dystrophies Laboratory at Genethon.
Preliminary results from the first cohort (3 patients treated) show:
• No unexpected safety signal identified
• Marked decline in levels of creatine kinase in all three patients
• Improved velocity, sustained at one year
• Disappearance of symptoms (cramps, myalgia) and improved quality of life
• Correction of centronucleation and evidence of transgene expression on the 3-month muscle biopsy
"The preliminary results from cohort 1 with the first dose tested already show encouraging results from a safety and efficacy perspective." says Prof. John Vissing, Director of the Neuromuscular Centre at Rigshospitalet National Hospital in Copenhagen and Principal Investigator of this clinical trial.
Recruitment of the second cohort, which will receive a three times higher treatment dose, has now started.
These initial results were presented at the Annual Meeting of the European Society of Gene & Cell Therapy on 24-27 October 2023 in Brussels, and will also be presented at the International Limb-Girdle Muscular Dystrophy Conference on 28-29 October 2023 in Washington DC, USA.
Atamyo Therapeutics, dedicated to limb-girdle muscular dystrophy
Atamyo Therapeutics is a clinical-stage biopharma focused on the development of a new generation of effective and safe gene therapies for muscular dystrophies and cardiomyopathies. A spin-off of gene therapy pioneer Genethon, Atamyo leverages unique expertise in AAV-based gene therapy and muscular dystrophies from the Progressive Muscular Dystrophies Laboratory at Genethon. For more information visit