Maria Grazia Biferi

TL;DR: Gene therapy approaches, involving the delivery of antisense oligonucleotides into the central nervous system (CNS) are being tested in clinical trials for patients with mutations in SOD1 or C9orf72 genes, and are potentially a promising avenue to develop an efficient and safe cure for ALS.

TL;DR: The effectiveness of an exon-skipping approach in SOD1-ALS mice is reported, supporting the translation of this technology to the treatment of this as yet incurable disease.

TL;DR: Clinical use of antisense oligonucleotides in three familial forms of ALS, caused by mutations in SOD1, C9orf72 and FUS genes are described, highlighting the potential of gene therapy as a transforming technology that will have a huge impact on treatment perspective for ALS patients and on the design of future clinical trials.

TL;DR: This study shows that the postnatal delivery of an AAV9 that expresses SMN under the control of the neuron-specific promoter synapsin selectively targets neurons without inducing re-expression in the peripheral organs of SMA mice, and suggests that further efforts are needed to understand the extent to which SMN is required in neurons and peripheral organs for a successful therapeutic effect.

TL;DR: The current methods for functional evaluation of adult SMA patients treated with Nusinersen are compiled and an overview of the known molecular changes underpinning disease heterogeneity is presented.