Animal models for metabolic, neuromuscular and ophthalmological rare diseases

Nat Rev Drug Discov. 2013 Apr;12(4):287-305. doi: 10.1038/nrd3831. Epub 2013 Mar 15.


Animal models are important tools in the discovery and development of treatments for rare diseases, particularly given the small populations of patients in which to evaluate therapeutic candidates. Here, we provide a compilation of mammalian animal models for metabolic, neuromuscular and ophthalmological orphan-designated conditions based on information gathered by the European Medicines Agency's Committee for Orphan Medicinal Products (COMP) since its establishment in 2000, as well as from a review of the literature. We discuss the predictive value of the models and their advantages and limitations with the aim of highlighting those that are appropriate for the preclinical evaluation of novel therapies, thereby facilitating further drug development for rare diseases.

Publication types

  • Review

MeSH terms

  • Animals
  • Disease Models, Animal
  • Drug Design*
  • Drug Evaluation, Preclinical / methods
  • Eye Diseases / drug therapy
  • Eye Diseases / physiopathology
  • Humans
  • Metabolic Diseases / drug therapy
  • Metabolic Diseases / physiopathology
  • Neuromuscular Diseases / physiopathology
  • Orphan Drug Production*
  • Rare Diseases / drug therapy*
  • Rare Diseases / physiopathology
  • Species Specificity