Gene-Based Approaches to Inherited Neurometabolic Diseases

Hum Gene Ther. 2019 Oct;30(10):1222-1235. doi: 10.1089/hum.2019.190. Epub 2019 Sep 10.

Abstract

In the last decade, the gene therapy (GT) field experienced a renaissance, thanks to crucial understandings and innovations in vector design, stem cell manipulation, conditioning protocols, and cell/vector delivery. These efforts were successfully coupled with unprecedented clinical results of the trials employing the newly developed technology and with the novel establishment of academic-industrial partnerships. A renewed and strengthened interest is rising in the development of gene-based approaches for inherited neurometabolic disorders with severe neurological involvement. Inherited metabolic disorders are monogenetic diseases caused by enzymatic or structural deficiencies affecting the lysosomal or peroxisomal metabolic activity. The metabolic defect can primarily affect the central nervous system, leading to neuronal death, microglial activation, inflammatory demyelination, and axonal degeneration. This review provides an overview of the GT strategies currently under clinical investigation for neurometabolic lysosomal and peroxisomal storage diseases, such as adrenoleukodystrophy and metachromatic leukodystrophy, as well as novel emerging indications such as mucopolysaccharidoses, gangliosidoses, and neuronal ceroid lipofuscinoses, with a comprehensive elucidation of the main features and mechanisms at the basis of a successful GT approach for these devastating diseases.

Keywords: gene therapy; inherited metabolic diseases; lysosomal storage diseases.

Publication types

  • Review

MeSH terms

  • Adrenoleukodystrophy / enzymology
  • Adrenoleukodystrophy / genetics
  • Adrenoleukodystrophy / pathology
  • Adrenoleukodystrophy / therapy*
  • Animals
  • Central Nervous System / enzymology
  • Central Nervous System / pathology
  • Clinical Trials as Topic
  • Dependovirus / genetics
  • Dependovirus / metabolism
  • Disease Models, Animal
  • Gangliosidoses / enzymology
  • Gangliosidoses / genetics
  • Gangliosidoses / pathology
  • Gangliosidoses / therapy*
  • Gene Editing / methods
  • Gene Transfer Techniques
  • Genetic Therapy / methods*
  • Genetic Vectors / chemistry
  • Genetic Vectors / metabolism
  • Humans
  • Lentivirus / genetics
  • Lentivirus / metabolism
  • Leukodystrophy, Metachromatic / enzymology
  • Leukodystrophy, Metachromatic / genetics
  • Leukodystrophy, Metachromatic / pathology
  • Leukodystrophy, Metachromatic / therapy*
  • Mucopolysaccharidoses / enzymology
  • Mucopolysaccharidoses / genetics
  • Mucopolysaccharidoses / pathology
  • Mucopolysaccharidoses / therapy*
  • Neuronal Ceroid-Lipofuscinoses / enzymology
  • Neuronal Ceroid-Lipofuscinoses / genetics
  • Neuronal Ceroid-Lipofuscinoses / pathology
  • Neuronal Ceroid-Lipofuscinoses / therapy*