Gene therapy for inherited muscle diseases: where genetics meets rehabilitation medicine

Am J Phys Med Rehabil. 2014 Nov;93(11 Suppl 3):S97-107. doi: 10.1097/PHM.0000000000000138.

Abstract

The development of clinical vectors to correct genetic mutations that cause inherited myopathies and related disorders of skeletal muscle is advancing at an impressive rate. Adeno-associated virus vectors are attractive for clinical use because (1) adeno-associated viruses do not cause human disease and (2) these vectors are able to persist for years. New vectors are now becoming available as gene therapy delivery tools, and recent preclinical experiments have demonstrated the feasibility, safety, and efficacy of gene therapy with adeno-associated virus for long-term correction of muscle pathology and weakness in myotubularin-deficient canine and murine disease models. In this review, recent advances in the application of gene therapies to treat inherited muscle disorders are presented, including Duchenne muscular dystrophy and x-linked myotubular myopathy. Potential areas for therapeutic synergies between rehabilitation medicine and genetics are also discussed.

Publication types

  • Review

MeSH terms

  • Animals
  • Cohort Studies
  • Combined Modality Therapy
  • Disease Models, Animal
  • Dogs
  • Forecasting
  • Genetic Therapy / methods*
  • Genetic Vectors
  • Humans
  • Muscular Diseases / diagnosis
  • Muscular Diseases / therapy
  • Muscular Dystrophy, Duchenne / diagnosis
  • Muscular Dystrophy, Duchenne / mortality
  • Muscular Dystrophy, Duchenne / therapy*
  • Myopathies, Structural, Congenital / diagnosis
  • Myopathies, Structural, Congenital / mortality
  • Myopathies, Structural, Congenital / therapy*
  • Physical and Rehabilitation Medicine / methods
  • Physical and Rehabilitation Medicine / trends*
  • Prognosis
  • Regenerative Medicine / methods
  • Regenerative Medicine / trends*
  • Survival Analysis
  • Treatment Outcome