Of the roughly 20 clinical trials underway at I-Motion, two concern gene therapy, which constitutes one of the preferred approaches to treating genetic diseases. It consists of inserting, into the cells of the patient, a normal version of a gene that is not functioning properly and that is causing the disease. The properly functioning gene then allows the patient to produce, once again, the protein, the deficiency of which was the source of the disease.
In the ASPIRO trial, a patient has recently been enrolled and randomised into the control group at I-Motion. This trial concerns myotubular myopathy, a rare and severe genetic disease affecting the skeletal muscles. Boys with this disease exhibit, from birth, hypotonia and generalised muscular weakness. This study, conducted by an American company, Audentes Therapeutics, is a phase 1/2, randomised, open-label, dose-escalation study with control group and delayed treatment, and its goal is to evaluate the preliminary safety and efficacy of AT132 administered by gene therapy via AAV8 among patients with X-Linked Myotubular Myopathy (XLMTM); a drug vector designed at Généthon
The phase 3 STR1VE-EU study concerns type 1 proximal spinal muscular atrophy (SMA) linked to SMN1, and its goal is to evaluate the safety and efficacy of AVXS-101 among infants who have this disease and who are less than 6 months old. AVXS-101 is a gene therapy drug candidate developed by AveXis. The intravenous administration of AVXS-101, which is the combination of an AAV9 adenoviral vector and the SMN1 gene, should make it possible to produce the SMN protein in the central nervous system by compensating for the absence of this gene in SMA. This trial started in August 2018 in Europe and in March 2019 in France, at the I-Motion Institute. To date, two patients have been enrolled and have received the treatment at I-Motion.