Supporting rare and orphan disease research with Real-World Data

Executive summary

Real-World Data (RWD) has the power to transform rare and orphan disease research. By connecting diverse datasets, harmonizing biosamples, and enabling secure global collaboration, it accelerates the development of novel, disease-modifying therapies and helps bring hope to patients living with conditions once deemed untreatable.

Why Real-World Data matters in rare disease research

At any given time, around 4% of the global population is affected by a rare disease — equivalent to roughly 300 million people worldwide [1]. Definitions vary by region, but the shared challenge remains: limited patient populations make it difficult to conduct large, statistically robust trials.

RWD and corresponding biosamples are changing this. By creating usable, secure data hubs that facilitate biomarker discovery and enable cross-border collaboration, researchers can accelerate the path to new therapies — from gene treatments to other novel modalities.

The power of data hubs and federated systems

To succeed, data hubs must harmonize formats, enable rapid search and secure sharing, and comply with international data protection regulations. BC Platforms supports these needs through its solutions, ensuring researchers can efficiently manage and analyze complex datasets while maintaining data integrity.

Incorporating RWD into studies for greater precision and ethical design

Rare diseases often affect pediatric patients, a particularly vulnerable group requiring strict ethical oversight. Incorporating RWD — including retrospective health, lifestyle, and standard-of-care data — allows researchers to design more specific, ethically sound studies that improve approval success rates.

Detailed real-world information also enhances understanding of disease progression and treatment response, creating better foundations for future clinical studies and therapeutic development.

Case study: advancing genomic medicine in Japan

One such group is the “Genome Infrastructure” group of the National Center for Global Health and Medicine (NCGM) in Japan. They are in charge of a large-scale whole-genome analysis of patients with various rare diseases as part of Japan’s efforts to realize and promote genomic medicine. They conduct whole-genome sequencing (WGS) of samples collected and stored by collaborators and make these available to the researchers. To augment this whole genome data, the collaborating researchers are providing detailed clinical information and specialized analysis with the goal of identifying known disease-causing gene mutations. The resulting data will be made available in a public database called CANNDs, which approved researchers from pharmaceutical companies and academia will be able to access via secure data-sharing solutions from BC Platforms. It is anticipated that access to these data will contribute to more reliable diagnoses, selecting appropriate therapeutic medicines, and the development of new therapeutic candidates.

One of the first rare diseases set to benefit from this initiative is HTLV-1-associated myelopathy (HAM) – a progressive bilateral leg paralysis which affects only a small subset of the 1 million individuals in Japan infected with human T-cell leukaemia virus type 1(HTLV-1), the virus that causes adult T-cell leukaemia (ALT). In this subgroup, HTLV-1-infected lymphocytes cause chronic inflammation in the spinal cord, which over time causes permanent damage. With access to such comprehensive data sources, the aim would be to identify biomarkers that predict disease progression and support the identification of disease-altering interventions.   

Cross-border collaboration for greater research impact

Identifying biomarkers for a specific disease requires access to data and biosamples, and this is true for rare diseases as well. However, the challenge when studying rare diseases is that there is often limited access to both. Projects like CureDuchenne Link™ global data hub have set out to directly address this by providing ready access for researchers and clinicians from across borders to data and biosamples from Duchenne Muscular Dystrophy sufferers and their families. CureDuchenne has integrated BC Platform’s CRP into CureDuchenne Link™. This data hub repository provides an invaluable single, unified, HIPAA-compliant platform accessible by clinicians, researchers, and drug developers globally to deliver novel insights into drug development.

Individual pharmaceutical companies are also actively collecting and using RWD to help generate real-world evidence (RWE) plans for their in-house pipelines of potential disease-modifying treatments for rare diseases. Collecting RWD for approved products via post-marketing studies is a key element in helping speed up accelerated approval of new therapies that have followed the same development path. For rare diseases, RWD is recognised as an important way to understand the use and risk-benefit profile for treatments outside of a clinical trial setting.   

What are the challenges to getting RWD used more widely in rare disease studies? 

Researchers and clinicians focused on rare diseases have for a long time recognised the need to share data. Doing this in a controlled and easy-to-use environment that takes care of issues like data harmonisation, compliance with local usage approvals, and controlled access is critical. Organisations like BC Platforms have developed their holistic data management solutions specifically to meet the needs of rare disease researchers, ensuring easy and rapid data searching, rigorous data harmonisation and management, and secure data sharing.  

There is an increasing demand for diverse data access to help address the pharmaceutical industry’s needs, including access to rare disease patient data. There is also a need to deliver critical unstructured data that meets stringent inclusion and exclusion criteria, and readily combines different data sets for analysis. It is 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. Meeting these criteria requires a seamless data management architecture that can flex and evolve over time, to underpin expansion whilst maintaining compliance with regional data security requirements.

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

Reference

Joszt, Laura. Not So Rare: 300 Million People Worldwide Affected by Rare Diseases. Am J Managed Care. 2019. https://www.ajmc.com/view/not-so-rare-300-million-people-worldwide-affected-by-rare-diseases.