Increasing the accessibility of rare disease therapies
There are about 7,000 rare diseases spanning various therapeutic areas, and many of the diseases lack therapies or even knowledge of disease drivers. Recent trends in a supportive regulatory environment and pharmaco-economic incentives are driving increased investments in rare disease drug discovery. 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.
The Disruptors: Conversations in Science
To pay homage to the most disruptive and visionary scientists leading the effort on the frontlines, Charles River is sharing stories about the state and direction of scientific research, discovery, and therapeutic development.
Meet the Disruptors
Most importantly, given the dearth of in vitro and in vivo models that can be used to test orphan drug compounds, we are committed to making these tools available to the drug development community. We offer end-to-end drug discovery services from target identification to IND enabling safety/toxicology studies and manufacturing via integrated multi-disciplinary teams, leveraging state-of-the-art capabilities and resources to customize rare and orphan disease drug development.
“Given the limited investment for rare disease groups like ours, our foundation has created a model that allows us and other patient advocacy groups to operate like a virtual biotech company and independently and efficiently drive drug development. The success of FRF’s model is not only focused on operating as a highly efficient team, but also partnering with organizations that are equally passionate about bringing treatments to children with the highest unmet need and severe burden of disease. Selecting the right partner is critical and Charles River has demonstrated a deep understanding of our model and commitment to working on our therapies.”
Nasha Fitter, FOXG1 Parent, Co-founder, and Chief Executive Officer, FOXG1 Research Foundation
Extending scientific know-how and concept to cure capabilities that empower patient groups and accelerate therapeutic programs, we are proud to collaborate with rare disease organizations globally, from individual families through established foundations, including:
Cure Rare Disease
- Vital Science S5, E06: Cure Rare Disease: Continuing a Legacy
- How Rare Diseases Are Driving Gene Therapy Research
FOXG1 Research Foundation
- A New Era for FOXG1: The Race to First‑in‑Human Trials
- A New Approach to Drive Rare Disease Drug Development
- Vital Science S5, E10: FOXG1 Syndrome: A Mom’s Mission
- CGT Summit 2024: FOXG1 Patient Story
Open Treatments Foundation
While a single orphan disease may affect just a handful of individuals, the global impact is significant – in the US alone between 25 and 35 million people are estimated to be afflicted with a rare disease, and 50-66% of known rare diseases affect children.
Collaborative Partnerships
Effective partnership is the key to finding solutions to what arguably are some of the most difficult to diagnose conditions. Charles River has partnered with the nonprofit foundation, CHDI, to develop novel assays and identify new disease regulators for Huntington’s disease. Another area of interest is muscular dystrophies where our scientists have used in vitro cell models to identify robust screening biomarkers as well as validated translational methods like preclinical imaging and motor skill assessment to define new biomarkers to assess in vivo therapeutic responses. We have recently partnered with Sanford Research to validate mouse models for Batten disease, a fatal lysosomal storage disorder that affects young children. Although these models have been widely used by the scientific community, recent collaborative studies have revealed novel features in both models, such as differences in key brain tissue metabolites and fine motor movement properties in Cln2 and Cln6 mouse models. The use of advanced technologies by Charles River has increased available endpoints used in these models to assess pharmacological responses to new therapies for Batten disease. Partnerships like these are vital to advance complex therapies for rare and orphan diseases and build translational bridges between preclinical and clinical studies.
Amyotrophic Lateral Sclerosis (ALS) is a devastating neurodegenerative disease for which there are no curative therapies. Listen to our webinar, Advance Your ALS Therapy with ASOs, and discover more about the process of ASO design, in vitro screening, efficacy studies and beyond.
End-to-end Drug Discovery
We offer a robust portfolio of in vitro assay capabilities including gene editing (CRISPR/Cas9), phenotypic screening, RNAi screening, and viral vector mediated gene delivery. The assay portfolio is complemented by disease-relevant cell systems, including iPS cells, patient derived tissues, hES cells, and primary cell lines derived from human tissues or rodent disease models. These capabilities allow us to build models and design assays for a given disease. A similar approach is employed for in vivo models where we can create a new model or validate an existing model for a given rare disease using disease relevant biomarkers and preclinical endpoints.
Tools for Rare Disease Drug Discovery
Early Discovery Services
In Vitro Assay Services
In Vivo Pharmacology Studies
- Amyotrophic lateral sclerosis
- Batten disease
- Duchenne muscular dystrophy
- Huntington’s disease
- Multiple sclerosis
Related Therapeutic Areas
Our safety assessment team provides a full range of in vivo and in vitro testing services for your rare disease programs and projects that comply with worldwide regulatory guidelines for non-clinical development. We can partner with you to develop and execute customized toxicology studies and pathology evaluations to move your program forward and bring your novel therapy to life.
Safety Assessment Services
- Integrated Toxicology
- Bioanalysis
- DMPK/ADME
- IND-enabling studies
- Pathology
- Safety pharmacology
- Toxicology
- Imaging and Radiochemistry
- Surgical models
Specialty Areas
Our integrated cell and gene therapy contract development and manufacturing organization (CDMO) team is committed to working hand in hand with rare disease developers to drive programs forward, streamlining the path to clinic and beyond. Explore the latest rare disease partnerships to learn more:
Cell and Gene Therapy CDMO Portfolio
We offer full-service support across the entire drug discovery and development continuum, including many products and services not specific to therapeutic area or indication.
Serving the needs of both small and large molecule developers, we offer a broad range of standard and specialized laboratory services to complement and enhance drug development programs, from discovery through safety and clinical trials. From complete IND-enabling programs to stand-alone assessments, our Safety Assessment team provides a full range of in vivo and in vitro testing services that comply with worldwide regulatory restrictions for the preclinical development of pharmaceuticals.
We provide a comprehensive range of testing programs and equipment to support pharmaceutical development. Our biologics testing solutions and portfolio of microbial quality control systems and services help clients ensure the safety, quality and compliance of their products. We support large molecule manufacturing from early preclinical formulation development through clinical and commercial manufacturing and release.
Exceptional support of the entire drug discovery and development process is a Charles River hallmark. As a customer-focused organization committed to advancing science and helping clients reach their goals, we continually strive to develop solutions that extend our support of their efforts. Because our industry-seasoned professionals have followed the same journey as our clients, we can provide insight into the bigger picture, advice on best practices, skilled staff to extend resources and targeted training to meet the unique challenges they face along the way.
Discover how Lena’s ultra rare PACS2 diagnosis sparked a global scientific effort, accelerating a potential treatment from discovery to preclinical toxicology in just two years.
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FOXG1 Research Foundation CEO Nasha Fitter shares milestone updates: FDA Fast Track, IND clearance, and the first FOXG1 gene therapy trial now in reach.
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In this episode of Sounds of Science, Lauren and Matt Noonan share their powerful journey following their daughter Jane’s diagnosis with Mowat-Wilson Syndrome.
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