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Supporting rare and orphan disease research: Delivering positive impact through real-world data

Supporting rare and orphan disease research: Delivering positive impact through real-world data

Real-world data has significant potential to enhance clinical research and accelerate the development of novel disease-modifying therapeutic interventions.   


Over time, the research community has seen that not all patients benefit from a particular therapy in a rare disease trial, and that such limited responses can slow down or derail the progression of otherwise disease-altering therapies. Real-world data (RWD), as well as corresponding biosamples, have the significant potential to enhance clinical research and accelerate the development of novel disease-modifying therapeutic interventions.  

How can RWD enable a more statistically relevant approach to rare disease research?

At present, it’s understood that approximately 4% of the world’s entire population is affected by a rare disease at any one particular time [1]. The definition of a rare disease varies depending on the region. In the EU this means a condition that affects less than 50 people per 100,000. In the US, by contrast, it is defined as a disorder affecting less than 200,000 people across the country (approx. 86 in 100,000 people). In other regions it can be defined as between 5-76 people per 100,000 [1].

Finding ways to directly connect data and samples from rare disease researchers to scientists and those involved with drug development is an area of high unmet need. Creating usable data hubs that can accelerate biomarker discovery and development of future treatments, including gene therapies and other novel modalities, will underpin successful future outcomes.

Such data hubs need to be able to harmonise data formats, facilitate rapid searching, enable data management and provide secure data sharing to ensure compliance with local and global regulations. Such data hubs need to fully integrate with various data sources through tools like a Discovery and Research Platform (DRP). With a DRP, BC Platforms supports data repository storage, as well as management and analysis tools for genomic, phenotypic, sample, and whole genome sequencing data.       

Why is it important to have rare disease information collated to support incorporation into studies? 

Rare diseases often affect children and paediatric patients, who are a protected population with regulatory constraints. Therefore, incorporating RWD, including additional retrospective information such as health, lifestyle and standard of care, into trial design enables better specificity to support ethical approval. 

The more detailed real-world information that can be available about rare diseases, the better insights that can be developed to help inform and direct research. Several groups around the world are creating comprehensive sets of data to improve rare disease research.  

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.   

What value does RWD from other countries and other studies bring?

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 BCP’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.

As CureDuchenne Founder and CEO, Debra Miller stated: “Creating world-class data hubs [like CureDuchenne Link] breaks down information silos and enables safe data sharing with controlled access to data and biosamples. Armed with such ready access to extensive information in one all-encompassing platform, qualified researchers can help effect real change in rare disease research around the world.”

Joszt, Laura. Not So Rare: 300 Million People Worldwide Affected by Rare Diseases. Am J Managed Care. 2019.