Suffering from myotubular myopathy, a disease that’s often fatal before the age of 2, Jules received a gene therapy treatment produced by research from Genethon, as part of a clinical trial in January 2020. His progress is spectacular.
His mom often says that Jules was born twice: once in 2016, and again in January 2020, when he received a gene therapy injection to halt the progression of his disease. Myotubular myopathy is related to a defect in the coding gene for myotubularin. Affected infants present significant muscle weakness, hypotonia and respiratory distress from birth. Half of all children affected die before the age of 2. Before the treatment, Jules was unable to breathe, speak, eat or move by himself. Two years later, this little boy is full of life and making up for lost time; he has become a real chatterbox, he breathes and eats by himself and for some time he has been able to stand alone.
The treatment that Jules received was developed at Genethon, by Ana Buj-Bello’s team, in collaboration with the University of Washington at Seattle and Harvard Medical School in Boston. Ana Buj-Bello managed to demonstrate the effectiveness of a gene therapy comprising an adeno-associated virus (AAV) carrying a normal copy of the gene mutated in the disease. In animal models, the therapy helped correct symptoms of the disease and prolong life expectancy.
Based on these spectacular preclinical results, Genethon embarked on a partnership with Audentes, a company specializing in the development of treatments for rare muscle diseases. In 2017 Audentes launched the first international gene therapy clinical trial for myotubular myopathy. Jules received his treatment as part of this trial.
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About myotubular myopathy
About the work of the Neuromuscular diseases and gene therapy team