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Accelerating Rare Disease Discovery: Leveraging Real-World Data for Phenotypic Characterization and Therapeutic Target Identification
The core scientific challenge in rare disease research is Phenotypic Variability and Incomplete
Penetrance—the inability of genetics alone to predict clinical course.
Real-World Data (RWD) provides the technical mandate for acceleration by transforming the entire
development lifecycle, yielding quantifiable evidence and mitigating systemic health disparities. RWD transcends the limitations of traditional research, which often fails to capture the lived
experience and access failures of marginalized patients due to cohort homogeneity. The inherent
rarity and heterogeneity of these conditions complicate traditional hypothesis-driven research,
limiting the ability to comprehensively understand disease natural history and identify robust
biomarkers.
RWD fundamentally converts the challenges of low patient prevalence and data scarcity into an
opportunity for scale. It facilitates deep phenotypic characterization and the uncovering of novel
therapeutic targets, thereby accelerating development. Analysis reveals persistent structural barriers,
including a 1.4-fold longer diagnostic journey for infants from underserved communities compared
to communities with established access to care, and 30−40% lower specialist uptake in rural and
low-opportunity regions. This framework provides the quantitative proof of systemic failure
and statistically validates the solutions required for clinical and regulatory acceleration.
RWD Drives Three Critical Goals:
Regal Intel was proud to participate in the Orphan Drug Summit 2025 in Boston. Our own Dr. Sanjay Ahuja, President and Director, was a featured speaker on the crucial "Unlocking Funding and Market Access for Orphan Drugs" panel. The summit, with its focus on real-world case studies, innovation, and collaborative discussions, perfectly aligned with our non-profit mission to drive the success of complex therapies for the public good. Our participation at the event underscored Regal Intel’s commitment to navigating intricate regulatory landscapes, optimizing development strategies, and leveraging cutting-edge analytics, all to ensure vital treatments reach the patients who need them most.
Regal Intel’s Dr. Sanjay Ahuja contributed to a critical discussion on the multifaceted challenges and opportunities in securing funding and ensuring market access for orphan drugs. The panel delved into strategic approaches across the entire product lifecycle, emphasizing how robust regulatory pathways, innovative clinical evidence generation, and resilient quality and supply chain systems are paramount to attracting investment and achieving sustainable commercialization. The discussion highlighted the interconnectedness of these elements in overcoming the unique hurdles faced by rare disease therapies, ultimately paving the way for broader patient access.
The panel explored how a proactive and sophisticated global regulatory strategy, including the strategic use of expedited pathways, can significantly enhance an orphan drug’s attractiveness to investors and accelerate its path to sustainable market access. Discussions also focused on innovative clinical trial designs, the critical role of Real-World Evidence (RWE), and robust post-market surveillance plans in generating compelling data for funding decisions and long-term market acceptance. Furthermore, the importance of comprehensive Quality Management Systems (QMS), meticulous supplier qualification, and a resilient global supply chain strategy were addressed as non-negotiable factors for assessing a drug's commercial viability and potential for broad market access.
We were honored to share our insights at the Orphan Drug Summit 2025 and engage in these vital discussions for the benefit of the rare disease community.
Regal Intel, Inc. is a 501(c)(3) public charity. All contributions are tax-deductible to the extent allowed by law. Copyright © 2025 Regal Intel - All Rights Reserved.
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