Edited by:
Markus Rüegg, PhD, Biozentrum, University of Basel, Switzerland
Carmen Birchmeier, PhD, Max Delbrück Center for Molecular Medicine, Germany
David Glass, MD, Regeneron Pharmaceuticals, United States of America
Image credit: Ilya Lukichev / Getty Images / iStock
Gene editing therapies in development for correcting out-of-frame DMD mutations in Duchenne muscular dystrophy aim to replicate benign spontaneous deletions. Deletion of 45–55 DMD exons (del45–55) was described i...
Amyotrophic lateral sclerosis (ALS) is characterized by progressive motor neuron (MN) degeneration, leading to neuromuscular junction (NMJ) dismantling and severe muscle atrophy. The nuclear receptor interacti...
Adult muscle-resident myogenic stem cells, satellite cells (SCs), that play non-redundant role in muscle regeneration, are intrinsically impaired in Duchenne muscular dystrophy (DMD). Previously we revealed th...
Adeno-associated virus (AAV)-based gene therapy is a promising strategy to treat muscle diseases. However, this strategy is currently confronted with challenges, including a lack of transduction efficiency acr...
Multiple clinical trials to assess the efficacy of AAV-directed gene transfer in participants with Duchenne muscular dystrophy (DMD) are ongoing. The success of these trials currently relies on standard functi...
Gene therapies are thought to be transformative treatments for monogenetic diseases. Recent years have seen a huge progress in their use in human patients with many ongoing clinical trials and a few treatments approved. A particular focus of such efforts are diseases that affect skeletal muscle and the neuromuscular system. However, there are also challenges to the field, such as the high dose of viral vectors needed, the insufficient targeting of skeletal muscle and possible immune reactions to the transgene. This collection will discuss many of those aspects and will highlight the measures taken to overcome these challenges.
Before submitting your manuscript, please ensure you have read our submission guidelines. Articles for this Collection should be submitted via our submission system, Snapp. During the submission process you will be asked whether you are submitting to a Collection, please select "Gene Therapy in Skeletal Muscle and Neuromuscular Diseases" from the dropdown menu.
Articles will undergo the journal’s standard peer-review process and are subject to all of the journal’s standard policies. Articles will be added to the Collection as they are published.
The Guest Editors have no competing interests with the submissions which they handle through the peer review process. The peer review of any submissions for which the Guest Editors have competing interests is handled by another Editorial Board Member who has no competing interests.