title: Animal models for metabolic, neuromuscular and ophthalmological rare diseases.
abstract: 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.
authors.affiliation: Human Medicines Special Areas, Human Medicines Development and Evaluation, European Medicines Agency, London E14 4HB, UK.
authors.forename: Guillaume
authors.initials: G
authors.lastname: Vaquer
authors.forename: Frida
authors.initials: F
authors.lastname: Rivière
authors.forename: Maria
authors.initials: M
authors.lastname: Mavris
authors.forename: Fabrizia
authors.initials: F
authors.lastname: Bignami
authors.forename: Jordi
authors.initials: J
authors.lastname: Llinares-Garcia
authors.forename: Kerstin
authors.initials: K
authors.lastname: Westermark
authors.forename: Bruno
authors.initials: B
authors.lastname: Sepodes
mesh_terms: D000818:Animals; D004195:Disease Models, Animal; D015195:Drug Design; D004353:Drug Evaluation, Preclinical / Q000379:methods; D005128:Eye Diseases / Q000188:drug therapy / Q000503:physiopathology; D006801:Humans; D008659:Metabolic Diseases / Q000188:drug therapy / Q000503:physiopathology; D009468:Neuromuscular Diseases / Q000503:physiopathology; D009965:Orphan Drug Production; D035583:Rare Diseases / Q000188:drug therapy* / Q000503:physiopathology; D013045:Species Specificity