Animal models for metabolic, neuromuscular and ophthalmological rare diseases
- 15 March 2013
- journal article
- review article
- Published by Springer Science and Business Media LLC in Nature Reviews Drug Discovery
- Vol. 12 (4), 287-305
- https://doi.org/10.1038/nrd3831
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.Keywords
This publication has 132 references indexed in Scilit:
- A call for transparent reporting to optimize the predictive value of preclinical researchNature, 2012
- Generation of transgenic monkeys with human inherited genetic diseaseMethods, 2009
- Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinicsEMBO Molecular Medicine, 2009
- Dependence of reversibility and progression of mouse neuronopathic Gaucher disease on acid β-glucosidase residual activity levelsMolecular Genetics and Metabolism, 2008
- Effect of Gene Therapy on Visual Function in Leber's Congenital AmaurosisThe New England Journal of Medicine, 2008
- Reversal of Blindness in Animal Models of Leber Congenital Amaurosis Using Optimized AAV2-mediated Gene TransferMolecular Therapy, 2008
- Chemically modified β-glucuronidase crosses blood–brain barrier and clears neuronal storage in murine mucopolysaccharidosis VIIProceedings of the National Academy of Sciences of the United States of America, 2008
- Amyotrophic lateral sclerosis models and human neuropathology: similarities and differencesActa Neuropathologica, 2007
- Characterization of an immunodeficient mouse model of mucopolysaccharidosis type I suitable for preclinical testing of human stem cell and gene therapyBrain Research Bulletin, 2007
- Possible therapeutic vaccines for canine myasthenia gravis: Implications for the human disease and associated fatigueBrain, Behavior, and Immunity, 2007