Animals play a crucial role in the preclinical development of drugs by enabling the discovery of new medicines and a way to test their efficacy and safety. Animal research has proven to be particularly impactful in the study of devastating rare diseases and has allowed the successful development of treatments for underserved patient populations.
Many rare diseases affecting humans occur naturally in animals. For instance, there are cats and dogs with lysosomal storage, muscular, immunological, and dermatological diseases and nonhuman primates (NHPs) with Krabbe disease, epidermolysis bullosa simplex, and Bardet-Biedl syndrome, among others. Models of rare diseases may also be generated in animals in order to test transformative therapies before they are advanced to human trials.
Several serious and debilitating rare diseases can now be treated because of animal research. For example, Luxturna® was developed to treat inherited blindness caused by retinal pigment epithelium 65/RPE65 deficiency, accounting for 5-6% of Leber’s Congenital Amaurosis (LCA) cases and affecting all ethnic groups worldwide. Preclinical development involved successfully treating naturally occurring RPE65-deficient Swedish Briard dogs affected by congenital stationary night blindness. Other preclinical studies involved restoring vision in mice engineered to be Rpe65 deficient, honing the route of administration in mice and NHPs, and evaluating safety and gene transfer in NHPs. This immense effort paved the way for the first injections of Luxturna® in humans in 2007-2008, a gene therapy that has since proven to provide sustained visual improvements in LCA patients, patients who otherwise would have lost their sight. In 2017, Luxturna® was the first gene therapy approved for use in the United States. A brief narrative on the key role Lancelot and other Briard shepherds played in the development of this life-changing therapy is captured here.
Similarly, mouse models and NHPs were crucial in the preclinical development of Hemgenix® for Hemophilia B, the first gene therapy approved for treatment of hemophilia of the United States in 2022. These animal studies allowed researchers to make key determinations about dosage, efficacy, and safety before moving into clinical trials in humans. The trajectory of the preclinical studies and later clinical development is summarized here.
Ultimately, animals play a vital role in rare disease research. Novel therapies for increasing numbers of rare diseases are being approved, all of which were developed through carefully designed research studies involving animals. Preclinical research involving animals will continue to provide key data supporting our greater understanding of rare diseases and the development of new treatments.
Franklin Biolabs is steadfastly committed to the ethical treatment and care of research animals and deeply appreciative of the essential role they play in advancing human health.
