The laboratory of Dr Ana Buj Bello established pioneering work on gene replacement therapy for X-linked myotubular myopathy (XLMTM) using adeno-associated viral (AAV) vectors. This ground-breaking work led to the initiation of the first ever clinical trial in patients with XLMTM. Results reported so far from this trial indicate significant improvements in muscle strength and progressive acquisition of motor milestones, but sadly also severe adverse events in some patients due to hepatobiliary (or liver) disease complications.
The goal of this new grant from Myotubular Trust to Dr Buj Bello and her team at Genethon is to develop an even more specific and potentially safer MTM1 vector to be brought to clinical trial. They aim to better characterise the liver in laboratory tests, both before and after gene therapy. Based on this understanding and new developments in the technology of AAV vectors they will generate optimised vectors with increased potency and specificity for MTM1 gene delivery.
These new optimised vectors will then be tested in dose-finding studies with the ultimate goal of moving into clinical trials.
Photo credit: Jean-Yves Seguy / AFM-Téléthon
