The GM1 and GM2 Gangliosidoses: Natural History and Progress toward Therapy

Pediatr Endocrinol Rev. 2016 Jun;13 Suppl 1(Suppl 1):663-73.

Abstract

The gangliosidoses are lysosomal storage disorders caused by accumulation of GM1 or GM2 gangliosides. GM1 gangliosidosis has both central nervous system and systemic findings; while, GM2 gangliosidosis is restricted primarily to the central nervous system. Both disorders have autosomal recessive modes of inheritance and a continuum of clinical presentations from a severe infantile form to a milder, chronic adult form. Both are devastating diseases without cure or specific treatment however, with the use of supportive aggressive medical management, the lifespan and quality of life has been extended for both diseases. Naturally occurring and engineered animal models that mimic the human diseases have enhanced our understanding of the pathogenesis of disease progression. Some models have shown significant improvement in symptoms and lifespan with enzyme replacement, substrate reduction, and anti-inflammatory treatments alone or in combination. More recently gene therapy has shown impressive results in large and small animal models. Treatment with FDA-approved glucose analogs to reduce the amount of ganglioside substrate is used as off-label treatments for some patients. Therapies also under clinical development include small molecule chaperones and gene therapy.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, N.I.H., Intramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Anti-Inflammatory Agents / therapeutic use*
  • Disease Progression
  • Enzyme Replacement Therapy / methods*
  • Gangliosidoses, GM2 / physiopathology
  • Gangliosidoses, GM2 / therapy*
  • Gangliosidosis, GM1 / physiopathology
  • Gangliosidosis, GM1 / therapy*
  • Genetic Therapy / methods*
  • Glucose / analogs & derivatives
  • Humans
  • Severity of Illness Index

Substances

  • Anti-Inflammatory Agents
  • Glucose