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Before she was born, doctors told Evie’s parents that her chances were slim. She was developmentally behind—ultrasounds could not detect her hands or feet. Evie was eventually diagnosed with infantile hypophosphatasia, an ultra-rare disease characterized by bone softening, resulting in recurrent fractures, joint pain, and inflammation. The disease had a 50% survival rate within the first year and doctors had no prognosis for Evie.

Despite the odds, Evie survived her first months of life and was ultimately enrolled in a trial of Alexion Pharmaceutical’s Strensiq®, a treatment targeting infantile and juvenile-onset hypophosphatasia. After only a few months, Evie’s bones began to develop, and today she is an 8-year-old girl who loves to swim and play foosball.

There are 7,000 known rare diseases and disorders in existence today, and more are being discovered all the time. While a single rare 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% of known rare diseases affect children.

Strensiq® was developed just in time for Evie, but traditional drug discovery can take ten years. Rare disease patients like Evie cannot wait for traditional timelines; swift and successful drug development is imperative, and made possible through effective partnerships.

Expediting Therapeutic Development

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. In this synergetic model, 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.

Working collaboratively expedites time to market for rare disease therapies. 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 Evie and other patients with hypophosphatasia.

Translational Research Models

Another area where collaboration plays a key role in drug discovery is the development of translatable research models; this need is especially acute in rare disease research. Working 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.

For muscular diseases such as Duchenne muscular dystrophy, animal 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. “There is a continual push amongst people who work in rare diseases to bring [treatments] forward quicker,” notes Dr. Martin Mackay, PhD, the former Head of Research and Development at Alexion Pharmaceuticals.

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.

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