Can real-world data power faster breakthroughs in rare diseases?

Executive summary

Rare disease patients have multiple shared hurdles, each bearing a unique burden at every stage of their ‘Diagnostic Journey’, which can take years. Even when a final diagnosis has been reached, little to no treatments may be available. Can Real-World Data (RWD) really make a difference for such small, underserved patient populations? Does the industry have the tools it needs to fully unlock RWD for rare diseases? 

Drawing on his experience as both a clinician and a parent of a rare disease patient, Dr. Solomon Kamal-Uddin, our Director of Medical Strategy, explores how secure, collaborative data ecosystems are accelerating discovery and offering new hope for the rare disease community.

My passion for solving the challenges faced by patients with rare diseases stems from my time in pediatrics, where I worked with many children that collectively had a rare disease. Over 70% of rare diseases may present in the pediatric population. During my work with this vulnerable group, I discovered the importance of building relationships and being symptom-oriented when understanding and diagnosing a rare disease patient and their family’s pathway.  

Later on in my career, I shifted toward pediatric emergency medicine, where I gained further clinical exposure, especially pre-diagnosis, where patients frustrated in their diagnostic journey would present multiple times to different health professionals. As the ‘Diagnostic Journey’ is a big chapter in the rare disease space, paying close attention to symptoms and understanding patient burden is crucial. Unfortunately, many individuals often go undiagnosed for years. My youngest daughter, who is ten years old, has a rare disease, so as a family, we’ve experienced this diagnostic journey. We were lucky to get her specific diagnosis, as it has only been described in very few individuals — a random genetic mutation. We take each day as it comes. It has given me a greater understanding of rare diseases from the perspective of a parent and as a clinician. 

An underserved community in need of novel therapeutics 

Despite their rarity in terms of how many individuals each rare disease affects, overall, there are around 8,000 known rare diseases affecting approximately 6% of the world’s population.  Despite their rarity, together, they represent a formidable public health challenge. In Europe, a rare disease is defined as one that affects fewer than 50 people per 100,000; whereas the US definition is defined as a disorder that affects fewer than 200,000 people across the country (approximately 59 people per 100,000). 

The difficulties in identifying and diagnosing patients with rare diseases make finding therapeutic breakthroughs for this underserved community all the more difficult. In my experience, clinical trials in the realm of rare diseases often struggle to recruit enough patients both to reflect the real-world population, and for gold standard statistical analysis and evidence generation for clinical trial outcomes. Sadly, there is also a high rate of morbidity and mortality that impacts follow-up. These challenges can stall the progression of potentially life-altering therapies. 

I believe the key to successfully unlocking breakthroughs in rare diseases comes through successful collaborations, which can only happen with streamlined data sharing.

How to support rare disease patients

There is an increasing demand for diverse data access to help address the pharmaceutical industry’s needs, including access to rare disease patient data. Delivery of critical unstructured data that meets stringent inclusion and exclusion criteria, and readily combines different data sets for analysis, is also required. 

RWD can be particularly powerful in the rare disease space, as it represents all the information about a patient’s journey outside a clinical trial. It is especially encouraging that the FDA and MHRA have both released guidance to aid the life sciences industry on the use of RWD in regulatory submissions.  

By helping map the clinical rare disease pathway across the healthcare journey and disease progression, RWD can bring efficiencies to drug development and reduce patient burden. It is also possible to support enhanced clinical trials by providing RWD that can identify patients who meet trial criteria, enhance protocol design, and help identify existing clinical trial sites.

RWD has also been highlighted as an important way to understand the use and risk-benefit profile of treatments outside a clinical trial setting. 

Currently, several research groups around the world are creating comprehensive data sets to improve rare disease research. Existing examples in Duchenne muscular dystrophy, spinal muscular atrophy, and Huntington’s disease research already demonstrate the potential success of using RWD.  

While RWD presents an opportunity, it does not come without its own hurdles. Often, there can be limitations when identifying data sources with sufficient volume and quality early in the process. There are also strict governance rules around information that must be adhered to; therefore, data mining generally requires a nuanced approach. 

Powering smarter, harmonized data to enable impactful health research 

Researchers and clinicians focused on rare diseases have, for a long time, recognized the need to share data. Doing this in a controlled and easy-to-use environment that takes care of issues like data harmonization, compliance with local usage approvals, and controlled access is critical. 

Organizations like BC Platforms have developed holistic data management solutions specifically to meet the needs of multidisciplinary rare disease researchers, ensuring easy and rapid data searching, rigorous data harmonization and management, and secure data sharing. In fact, my role at BC Platforms is to support RWD to address drug development and healthcare hurdles. 

BC Platforms’ modular, highly configurable platform for integrated healthcare data, combined with our federated Global Data Partner Network and over 20+ years’ of solving difficult challenges in data management and analytics, provides a strong backbone for global collaborations that are driving important advances in rare disease research. 

Supporting rare disease breakthroughs 

BC Platforms has a track record of supporting research in rare diseases, working closely with several organizations to expand RWD access. BC Platforms has a significant heritage in creating safe and secure genomics platforms for a wide variety of clinical indications, applications, research, as well as in drug discovery. 

The “Genome Infrastructure” group of the National Center for Global Health and Medicine (NCGM) in Japan is an organization in charge of a large-scale whole-genome analysis of patients with various rare diseases as part of Japan’s efforts to realise and promote genomic medicine. The resulting data has been made available in a public database called CANNDs, which approved researchers from pharmaceutical companies and academia can access via secure data-sharing solutions provided by BC Platforms. 

In 2021, CureDuchenne, a leading global non-profit organization focused on finding and funding a cure for Duchenne muscular dystrophy, started collaborating with BC Platforms. As part of the collaboration, CureDuchenne has integrated one of BC Platforms’ key technologies into its CureDuchenne Link™ global data hub. BC Platforms’ role in this 10-year project is to provide a data hub that can fully integrate with a variety of data sources through its platform, including aggregate data management and data sharing. BC Platforms supports data repository storage, as well as management and analysis tools for genomic, phenotypic, sample, and whole genome sequencing data. 

With established trust-based relationships with key rare disease institutions and opinion leaders, we understand how RWD, used safely and securely in collaboration with multidisciplinary stakeholders, combined with an understanding of regulatory requirements, can accelerate the development of new care pathways and potential treatments for patients with rare diseases. That is something I’m very proud to be contributing to. 

References

Taruscio, D. and Gahl, W.A., 2024. Rare diseases: challenges and opportunities for research and public health. Nature Reviews Disease Primers, 10(1), p.13.