Rare & Orphan Disease Drug Discovery

There are thousands of known rare diseases spanning various therapeutic areas and more are being identified in specific patient populations. Unfortunately, most rare and ultra-rare diseases lack therapies or even knowledge of disease drivers, especially with regard to genetic disorders. The growing unmet clinical need, a supportive regulatory environment, and pharmaco-economic incentives are driving increased investments in rare disease drug discovery. One of the key components to successful drug discovery is the development of robust preclinical data, which is heavily dependent on in vitro and in vivo models that are used for various steps in the development process (e.g., screening, biomarker identification, and pharmacology and efficacy studies).

Research models are an essential component to understanding the underlying pathophysiology of rare and orphan diseases, as a model contains a complete interactive physiology that allows the evaluation of therapies in a more meaningful context. While animal models typically do not fully recapitulate disease pathophysiology, they express many disease characteristics similar to human patients. It is critical to understand what limitations and similarities animal models have, as it allows researchers to create relevant clinical context to apply preclinical research data.

Charles River has developed tools for quicker and more translational preclinical studies that will help push more clinical candidates targeting rare diseases into the clinic. This includes validating relevant models and investigating the mechanisms of action using appropriate biomarker endpoints, such as imaging, gait and movement, and cognitive testing. Our validation studies are performed on either commercially available or novel research models that are provided by the client. We have a long and successful history of collaboration with disease foundations such as CHDI and Sanford Research to validate animal models of Huntington’s disease and Batten disease, respectively.

We offer end-to-end drug discovery services from target identification to IND-enabling safety/toxicology studies via integrated multidisciplinary teams leveraging state-of-the-art capabilities and resources to customize orphan drug discovery programs across multiple therapeutic areas. Currently, disease areas of interest include Huntington’s disease, ALS, Batten disease, MS, SLE and muscular dystrophy, and there is continued focus to validate new and existing models of rare and orphan diseases.

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