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Success Factors for Orphan Drug Development


When approached correctly, drug development in the rare disease space can be quite successful – especially when powerhouses across the industry join forces and leverage the power of data to help drive potential treatment options.

Given orphan drugs are intended to treat diseases that are very rare, orphan drug development is sometimes seen as a risk for the pharmaceutical industry, as it often requires several years of research efforts in drug discovery with uncertainty for therapeutic outcomes. However, when approached correctly, drug development in the rare disease space can be quite successful – especially when powerhouses across the industry join forces and leverage the power of data to help drive potential treatment options.

While pharmaceutical companies have been greatly relying on their own sources of insights into rare diseases for research and discovery efforts, it has created gaps in data and presented challenges internally. Repurchasing the same data sources, lacking communication across the board, and simply relying on too many sources has led to obstacles and delays in the orphan drug development process, even for large pharmaceutical organizations.

CENTOGENE, a commercial-stage company focused on rare diseases that transforms real-world clinical and genetic data into actionable insights, saw this gap early on and seized the opportunity to work on an approach that would provide its pharmaceutical partners with a comprehensive and standardized source of information that could continuously be updated with new knowledge. As Prof. Arndt Rolfs, CEO of CENTOGENE commented, “We have to ask ourselves, ‘How can we make the biggest impact?’ And quite honestly, the answer is simple – combined forces.”

When Professor Rolfs founded his company in 2006, the goal was clear – to deliver transformational solutions to the 350 million rare disease patients globally, many of whom don’t have a viable treatment option. Along the way, the company quickly realized that in order to make real progress in the rare disease field, they had to dive deeper into each of the individual diseases – unlocking the latest insights and creating knowledge that helped characterize the unique features of rare diseases.

in 2014 the company released CentoMD®, believed to be the world’s largest mutation database of rare diseases. The database, which draws on information from genotype-phenotype correlation-based tested clinical cases, includes genetic variants associated to epidemiological data and clinical information, such as signs and symptoms of the disease. As of March 31, 2020, the database included pseudonymized, curated data from over 400,000 patients with over 12.2 million unique variants – growing the database’s information by over 10% in cases and over 20% in unique variants in the last year alone. Roughly 20% of those patients are from the Middle East, 15% are from Latin America, 15% are from North America, 20-25% are from Europe, and the remaining 20-25% are from Asia, New Zealand, and Australia – providing a highly diverse snapshot into rare diseases.

Driving progress with the power of data and collaboration

While the detailed information from patients around the world that comprises CentoMD® fuels the knowledge base of rare disease populations and shortens their diagnostic odysseys, rare disease patients are still awaiting life-saving treatments. At the end of 2019, CENTOGENE signed a Data Access and Collaboration Agreement with Pfizer, granting Pfizer access to its data repository and allowing the drugmaker to use this information in the discovery and validation of novel genetic and biochemical targets for the potential development of new therapies for rare diseases.

With only 5% of rare diseases currently having an approved treatment, this collaboration opened up a new door for the field of orphan drug development. Not only does it allow for the leveraging of extensive resources, but it enables a targeted approach to orphan drug development that would not be possible without the unsurpassed knowledge drawn from the data repository.

What this means for the rest of the community

In the grand scheme of things, the CENTOGENE partnership with Pfizer symbolizes several actions that must happen now as the orphan drug development community moves forward.

  • Acceleration through data – Simply put, data is key to developing medical solutions that not only bring hope to patients and their families, but that will also make it through the regulatory challenges. Real-world, new, and ethnically diverse data that provides a complete picture to rare diseases and their features is essential to the drug development process. Everyday new variants, symptoms, and even diseases themselves are being discovered. Data is needed to complete the picture that drives the acceleration of orphan drug development forward.
  • Collaboration – While the medical community at times can feel like a competitive race, collaborations underline the importance of working together. Partnerships make it possible to deliver life-saving treatments to rare disease patients who themselves are in a race against time. While this may feel strange at times — involving politics, different business approaches, and varying opinions — it is necessary to constantly remember the reason (the patients) behind the actions.
  • Innovation – Continuously having to innovate, especially during this time of the novel coronavirus pandemic, is a challenge. However, as a member of the biotech community, it is our responsibility to our patients to continue to move forward despite difficult circumstances
  • De-Risking - In spite of ongoing increases in R&D expenses in the genomics area, nearly 95% of drug programs which enter clinical development fail. Given the fact that clinical development costs are significantly higher compared to pre-clinical research, the ability to fail fast through stringent qualifications prior to entering into the clinic is urgently needed. Any strategy that helps to “de-risk” the development of a new drug is success critical.

Data, collaboration, and innovation have been CENTOGENE’s key drivers for successfully supporting orphan drug development. While these essential components come with their own challenges, even for most experienced companies, one thing remains consistent; change. As the orphan drug development process evolves, we are learning that success is only realized if it is driven by real patient insights.

Dr. Volkmar Weckesser is Chief Information Officer at CENTOGENE GMBH.

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