Pierre is a 14-year-old middle-schooler. Four years ago he received the diagnosis on FKRP limb girdle muscular dystrophy. This progressive disease saps his strength little by little. At Genethon, Isabelle Richard’s team has worked for over 25 years on limb girdle muscular dystrophy. A first gene therapy treatment for Pierre’s disease could enter clinical trials within a few months.
Limb girdle muscular dystrophies cover a set of pathologies that are characterized by progressive degeneration of the pelvic muscles and the shoulder muscles, leading to loss of motor skills in the upper and lower limbs. Limb girdle muscular dystrophy with FKRP deficiency is a disease caused by anomalies in the FKRP protein coding gene, located on chromosome 19. The age of onset of this dystrophy varies between early childhood and early adulthood and is characterized by a rapid deterioration and loss of mobility in adolescence, or later in adulthood.
At the end of October, Genethon and AFM-Téléthon announced that Atamyo, Genethon’s spin-off biotech company, had just submitted a clinical trial authorization request for a gene therapy product to halt the progress of this form of limb girdle muscular dystrophy. This product is based on the scientific research carried out by Isabelle Richard’s team for the past 25 years. After identifying certain genes responsible for limb girdle muscular dystrophy, Isabelle Richard and her team developed a gene therapy using an AAV vector and demonstrated that it could halt the progression of this disease in preclinical models of the disease. A natural history study was launched in 2019 in France, Denmark and the United Kingdom to better document and understand the progress of the disease.
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