New TriNetX Research Impact Report Illuminates How Real-World Data is Fueling Rare Disease Innovation

Analysis reveals strategic opportunities for pharmaceutical leaders to close treatment gaps and accelerate breakthroughs in underserved rare disease communities.  

CAMBRIDGE, Mass., July 31, 2025 /PRNewswire/ -- TriNetX, driven by its vision of a connected world where data and intelligence power improved human health, has released its latest CSO Perspectives: Research Impact Report—Unlocking Rare Disease Insights, spotlighting how life sciences organizations are using real-world data (RWD) to drive innovation across the rare disease research continuum.

With 263-446 million persons affected globally at any point in time by 7,000 distinct conditions, this report makes clear that rare disease research is no longer niche; it is a high-stakes frontier for scientific and strategic advancement.

Drawing from real-world studies conducted utilizing RWD from the TriNetX LIVE™ platform, the report showcases how advanced data science is helping to overcome chronic evidence gaps and deliver actionable insights across the product lifecycle—from early feasibility to regulatory submission and market access.

"Rare diseases are chronically underserved but collectively common," said Jeffrey Brown, PhD, Chief Scientific Officer at TriNetX. "Our data show that when applied thoughtfully, real-world evidence can do more than fill gaps. It can guide entirely new approaches to treatment and care."

Key Insights from the Report

• RWD is Central, Not Peripheral: Regulatory bodies are increasingly embracing RWD to inform decisions, particularly where traditional rare disease clinical trials fall short due to small, heterogeneous populations.
• Electronic Health Records (EHRs) Power Expanded Clinical Trial Possibilities: EHR-derived data offer longitudinal, real-time insights that help pharma teams identify eligible patients, test protocols, and streamline trial site identification.
• Strategic Value Proven in Rare Disease Studies: In Paroxysmal Nocturnal Hemoglobinuria (PNH), RWD revealed persistent disease activity in patients treated with C5 inhibitors, highlighting unmet needs and supporting the rationale for next-generation therapies like C3 inhibitors. In Eosinophilic Granulomatosis with Polyangiitis (EGPA) and Hypereosinophilic Syndrome (HES), RWD enabled some of the most comprehensive real-world analyses to date, offering clarity where traditional studies could not.

"By combining deep clinical data with scalable analytics, we can illuminate what has long been invisible in rare disease research," said K. Arnold Chan, MD, ScD, SVP, Office of the Chief Scientific Officer at TriNetX. "These studies demonstrate how real-world data can capture the complexity of care and reveal patterns that traditional research often misses."

Why it Matters Now

The report underscores a seismic shift in rare disease research strategy. As traditional evidence-generation models strain under the weight of ultra-rare and complex diseases, integrated RWD platforms like TriNetX LIVE™ provide a scalable, regulatory-grade solution for drug development, trial design, and payer engagement.

Download the Report

For a detailed look at the studies, strategic implications, and how TriNetX is partnering with leading life sciences companies to accelerate rare disease breakthroughs, access the full CSO Perspectives: Research Impact Report—Unlocking Rare Disease Insights.

About TriNetX, LLC
TriNetX operates the world's broadest federated network of real-world data in partnership with healthcare providers and applies intelligence that accelerates innovation across the healthcare ecosystem. Through its self-service, HIPAA-, GDPR-, and LGPD-compliant platform of federated deidentified and anonymous electronic health record datasets and consulting partnerships, TriNetX empowers its global community to improve clinical trial protocol design, streamline trial operations, refine safety signals, and enrich real-world evidence generation. For more information, please visit TriNetX at www.trinetx.com or follow TriNetX on LinkedIn.

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SOURCE TriNetX