17 Oct 2025
For rare genetic conditions like achondroplasia, traditional data sources seldom provide the detailed insights needed to design robust clinical trials. Achondroplasia affects approximately 1 in 20,000 to 30,000 live births per year and an estimated 1–9 individuals per 100,000 globally —making it one of the more common skeletal dysplasias, yet still significantly underrepresented in research. This scarcity in large population datasets makes it difficult for drug developers to confirm whether an emerging treatment will improve patient outcomes. Overcoming these challenges requires access to real-world, de-identified genomic data that can bridge critical evidence gaps and drive meaningful progress in developing targeted therapies for patients.
The challenge
Finding and Understanding the Right Patients Underrepresentation in clinical research creates a persistent challenge for trial design. Without comprehensive, disease-specific data, finding eligible patients can become a slow, resource-intensive process—delaying timelines and increasing the risk of trial failure. In pursuit of overcoming these barriers, one biopharmaceutical sponsor partnered with Invitae data, accessed through through Invitae's Cohort Explorer (now part of Labcorp), to better understand patient populations affected by achondroplasia and related skeletal dysplasias.
A data-driven solution: Cohort explorer
In highly penetrant disorders—where a specific genetic variant almost always causes the condition—the absence of detailed genetic data complicates therapy development. Cohort Explorer helps address this by providing de-identified, aggregated datasets that include genetic, clinical and geographic distribution information for disease-focused cohorts. This enables biopharma teams to design more efficient, targeted trials. In this program, the sponsor applied a genotype-first approach. They focused on individuals with the G380R FGFR3 variant and compared diagnostic and procedural codes across cohorts. This approach revealed a deeper layer of evidence beyond traditional population studies, offering a comprehensive view of the clinical profiles of affected individuals. The findings confirmed the unmet need in achondroplasia. They also revealed opportunities to expand research into additional FGFR3 related conditions, including hypochondroplasia and thanatophoric dysplasia.
From insight to impact
By linking genetic variants to real-world clinical data, the sponsor was able to:
- Accelerate trial readiness: Identify and characterize patient populations faster to design more targeted, efficient trials
- Validate target populations: Confirm the presence and impact of genetic variants in a large, curated dataset to align strategies with patient needs
- Expand therapeutic opportunities: Discover previously hidden subgroups that may benefit from treatment, supporting indication expansion
- Improve development efficiency: Reduce delays, save costs and increase the likelihood of trial success
From data to development
This work, done in partnership with a leading biotechnology company, highlights the power of combining real-world genomic and clinical data to inform rare disease drug development. By connecting genotype data with real-world clinical insights, the team was able to validate assumptions, identify patient populations and uncover new therapeutic opportunities with confidence. Data can accelerate innovation. Together, we can advance research, shorten development timelines and bring new treatments to patients with rare genetic conditions faster.