Harnessing real-world data for rare and orphan disease research

Female scientist

This paid-for advertorial by BC Platforms appeared in DDW Volume 24 – Issue 3, Summer 2023

The use of real-world data (RWD) is demonstrating significant potential to enhance rare and orphan disease clinical research and development. By incorporating data from sources such as electronic health records, medical claims, patient registries, and wearable devices, RWD could accelerate the identification of unique biomarkers while supporting the development of novel therapies and the extension of existing ones to new indications.

Research shows that around 4% of the world’s population is affected by a rare disease at any one point in time1. Clinical trials for these conditions can present inherent challenges such as a small patient pool, and can be further restricted by rigid inclusion or exclusion criteria. This is a tpar with an often incomplete understanding of the disease and its natural history to inform a trial’s end-point2.

This short Q&A looks at how RWD can make a positive impact to rare and orphan disease clinical research – including the development of novel treatment options and extension to new indications.

How can researchers gain access to rare and orphan disease patient data, including RWD?

Directly connecting data and samples from rare disease researchers to scientists and those involved with drug development, is an area of high unmet need. Data hubs provide an effective solution, harmonising data formats, facilitating rapid searching, enabling data management, and providing secure data sharing that complies with local and global regulations. They also need to fully integrate with various data sources through tools such as Discovery and Research Platforms (DRPs).

BC Platforms, a global leader in healthcare data management and analytics, uses DRPs to support data repository storage, as well as management and analysis tools for genomic data. This includes whole genome sequencing, as well as phenotypic and sample data.

How can rare and orphan disease RWD support clinical research?

Several groups worldwide are creating comprehensive sets of RWD dedicated to improving rare disease research, including the ‘Genome Infrastructure’ group at Japan’s National Center for Global Health and Medicine. The group’s large- scale whole-genome analysis of patients, combined with detailed clinical information and specialised analysis is available to researchers through its public database, CANNDs, which is accessed via data-sharing solutions from BC Platforms. The database includes patients with HTLV-1- associated myelopathy (HAM) – a progressive bilateral leg paralysis affecting around 1 million individuals in Japan who are infected with human T-cell leukaemia virus type 1(HTLV-1).

With the potential to improve the reliability of diagnoses, the selection of existing therapeutic medicines and the development of novel therapies, CANNDs is poised to improve patient outcomes.

Identifying biomarkers for a specific disease requires access to data and biosamples, although for rare diseases access to both can be limited. Projects like the CureDuchenne Link data hub directly address this challenge, providing global access to data and biosamples from Duchenne Muscular Dystrophy patients and their families across the USA. Integrating BC Platforms’ DRP, the data hub delivers a single, unified, HIPAA-compliant platform to clinicians, researchers, and drug developers.

How can RWD impact pharmaceutical companies’ in-house therapeutic pipelines?

RWD can help generate real- world evidence (RWE) plans to support clinical research and development. The use of RWD for post-marketing- authorisation studies can help the accelerated approval of new indications and unveil novel therapies. It can also help with understanding the use and risk-benefit profile for rare disease treatments outside of a clinical trial setting.

BC Platforms’ modular, highly configurable platform for integrated healthcare data, combined with its federated Global Data Partner Network and 25-plus years’ pioneering work in data management and analytics solutions, provides a strong backbone for global collaborations to drive important advances in rare disease research.


  1. Joszt L. Not So Rare: 300 Million People Worldwide Affected by Rare Diseases. Am J Managed Care https://www.ajmc.com/ view/not-so-rare-300-million-people- worldwide-affected-by-rare-diseases.
  2. Pizzamiglio C, et al. Designing clinical trials for rare diseases: unique challenges and opportunities. Nat Rev Methods Primers https:// www.ncbi.nlm.nih.gov/pmc/articles/ PMC7613711/

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