Genea Biocells exhibited at the International Congress for NeuroMuscular Diseases (ICNMD) in Vienna, Austria from July 6-10, 2018. The organizers did an excellent job to accommodate about 1,500 delegates – almost twice as many as they had planned for. It was great to see this level of interest in neuromuscular diseases – sessions were well-attended, often with people having to stand and the exhibition hall was a constant bustle right until it was time to pack up on the 5th day of the meeting. The Biocells team enjoyed the interactions at our booth with a mostly clinical audience to learn about recent diagnostic, standard of care and therapeutic advances for numerous muscle related indications.
Scientific sessions primarily focused on scientific and clinical aspects of various neuromuscular diseases as well as patient care and diagnostics. The field in general seemed particularly buoyed by recent advances in the treatment of patients with spinal muscular atrophy (SMA). Besides Ionis/Biogen’s Spinraza which is already on the market, impressive clinical data was presented on Avexis AVXS-101, an AAV-based gene therapy to restore SMN expression which is currently in pivotal clinical trials. Another, potentially even more significant breakthrough for the treatment of SMA patients present small molecule ‘splice modifier’ drugs that boost SMN2 protein levels, the most advanced being PTC Therapeutics/Roche’s Risdiplam for which pivotal trials are also ongoing. Interestingly, it was reported that SMA type 1 patients who have been treated for some time now with Spinraza develop specific disease symptoms which are different from less severely affected type 2 SMA patients and which will require additional treatment. This directly supports Genea Biocells’ rationale for developing a skeletal muscle-targeted therapy to be used as an add-on to motor neuron-targeted therapies on the market or in development. In the workshop on FSHD, the audience learnt from Dr. Stephen Tapscott about DUX4 and its involvement in development and muscle disease before Dr. Jeffrey Statland talked about the challenges of clinical trials for FSHD and the current status of using biomarkers and imaging techniques to quantitatively monitor disease progression or treatment efficacy, such as Genea Biocells’ GBC0905, in the future. The workshop concluded with George Padberg’s overview on how genetic and epigenetic factors can be linked to clinical FSHD features and how those findings shape translational research.
Genea Biocells also presented 2 posters with recent research updates on myotonic dystrophy type 1 (DM1) and on LAMA2/MDC1A congenital muscular dystrophy. The latter was based on the work of Genea Biocells’ intern, Kenyon Lyon, who was supported through the California Institute of Regenerative Medicine’s Bridges program. The poster entitled, “A Pluripotent Stem Cell-Derived Model of Merosin Deficient Congenital Muscular Dystrophy” presented the world’s first disease model of LAMA2/MDC1A using disease-affected human pluripotent stem cells differentiated to mature myotubes. This cellular model of MDC1A, a severe, typically infant-onset muscular dystrophy, recapitulates several disease-specific defects: impaired myogenesis, impaired mitochondrial function, and increased apoptosis. This platform is a powerful tool for studying neuromuscular diseases and also forms the foundation of Genea Biocells’ LAMA2/MDC1A drug development program.