Gene therapy for gene-based myopathies: review of the literature and prospects

Gene therapy has emerged as a promising avenue in the search for effective treatments for patients with gene-based myopathies. This review of the dedicated scientific literature, carried out by two clinicians from the Institute of Myology, explores the use of viral vectors and in particular recombinant adeno-associated virus (rAAV) vectors as powerful tools for gene delivery. The case of primary myopathies is addressed here, in particular :

  • Duchenne muscular dystrophy (DMD),
  • limb-girdle muscular dystrophies (LGMD),
  • X-linked myotubular myopathy (XLMTM),
  • Pompe disease.

The authors review current preclinical and clinical trials for these diseases, highlighting the therapeutic promise of rAAV-based gene therapies. Recent developments in gene therapy have unveiled innovative approaches to gene transfer, particularly with rAAV vectors. These vectors offer an effective and well-tolerated means of delivering corrective genetic material to diseased muscles, thereby addressing the root causes of these myopathies.

Promising results from preclinical studies and preliminary clinical trials have shown :

  • improved muscle function,
  • reduced pathological manifestations,
  • improved quality of life for patients suffering from these devastating diseases.

However, the transition from laboratory to bedside is not without its difficulties. This study highlights the critical need for a comprehensive risk management strategy to better manage the potential side effects and immune responses associated with gene therapy. So, as the field of gene therapy for genetic myopathies progresses, it remains imperative to refine and optimize safety measures, ensuring that the transformative potential of these therapies is realized while minimizing risk.


Querin G, Colella M. Gene therapy for primary myopathies: literature review and prospects. Arch Pediatr. 2023 Nov;30(8S1):8S18-8S23. doi: 10.1016/S0929-693X(23)00223-3. PMID: 38043978.