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Accelerating Timelines for Rare Disease Drug Development

There are 7,000 known rare diseases and disorders in existence today, and more are being discovered all the time. While a single orphan disease may affect just a handful of individuals, the global impact is significant. In the United States alone, between 25 and 35 million people are estimated to be afflicted with a rare disease and 50-66 percent of known rare diseases affect children.

Traditional drug discovery processes can take 10 years to bring a drug to market. But this fact is simple: rare disease patients, like Evie, cannot wait for traditional timelines. Swift and successful drug development is imperative, and the key is effective partnerships.

There is an increasing shift towards true partnership across academia, industry and contract research organizations (CROs) to work collaboratively to find therapies for the most difficult to diagnose conditions. While academic labs perform groundbreaking research to identify new disease drivers, biotech and pharma companies work to develop targeted therapies, and CROs offer customized assays and models to rapidly perform pharmacology and safety studies.

Expediting Therapeutic Development

Working collaboratively expedites time to market for rare disease therapies. Alexion Pharmaceutical’s development of Strensiq®, targeting infantile and juvenile-onset hypophosphatasia, an ultra-rare disease characterized by bone softening, resulting in recurrent fractures, joint pain, and inflammation, is an example of this success.

Alexion partnered with Charles River, a leading early-stage CRO, to perform critical drug development and safety studies to move Strensiq® rapidly into clinical trials. Getting this FDA-designated breakthrough therapy to market in 2015 was critical for patients with hypophosphatasia. Watch one patient's story here

Translational Research Models

In addition, the necessity of developing translatable research models is an acute need in rare disease research. Collaborating with Sanford Research, Charles River validated models for Batten disease, a fatal lysosomal storage disorder that affects young children. Recent studies have shown differences in brain metabolites and movement in Cln2 and Cln6 mutant models that could be endpoints to assess responses to new therapies for Batten’s disease caused by specific Cln protein variants. 

Additionally, for muscular diseases, such as Duchenne muscular dystrophy, the models do not always demonstrate the same symptoms as human patients, so visual detection of symptoms is impossible. Charles River 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.

The Bottom Line

Stakeholders in academia, industry and CROs are committed to building a complete platform to develop therapies for rare diseases, and they are using their combined expertise and resources to get there. The unique capabilities of CROs, like Charles River, allow the design of customized rare disease studies using pre-existing methods, considerably increasing the efficiency and effectiveness of novel therapeutic development.

Thousands of rare diseases still lack novel therapies. But the creation of a robust collaborative ecosystem will ultimately facilitate efficient drug development for the patients who desperately need it. 

This article was created in collaboration with the sponsoring company and our sales and marketing team. The editorial team does not contribute.