Accessed Patient and Variant Landscapes far more comprehensive than previously available, directly supporting inclusion/exclusion criteria, endpoint definition, and recruitment projections.
Provided transparent, reference-cited evidence on disease prevalence, natural history, and unmet need, which strengthened the case for targeted therapeutics.
Leveraged high-value RWE and RWI to power regulatory submissions, trial feasibility, and future publication opportunities.
A leading biopharma company set out to advance new therapies for a rare, inherited cardiac disorder marked by hypertrophy, arrhythmias, and progressive conduction disease. To design effective IND prep and guide regulatory engagement, the sponsor needed a detailed understanding of the full spectrum of causal variants, their associated phenotypes, and the natural history of disease progression across diverse patient populations.
Traditional resources were insufficient: publicly available variant databases were fragmented, many reported mutations lacked functional or clinical annotation, and a large proportion were classified as variants of uncertain significance (VUS), making it difficult to establish precise inclusion and exclusion criteria. Equally challenging, case-level data often lacked longitudinal follow-up, leaving critical gaps in understanding disease trajectories, progression rates, and clinical event timing needed for trial endpoint design.
To overcome these challenges, the company required comprehensive, literature-derived real world evidence (RWE) to:
Genomenon partnered with this biopharma leader to deliver a robust, literature-derived RWE package, including a Variant Landscape, Patient Landscape, and systematic prevalence analysis for the targeted disorder. Genomenon’s unique approach provided not just a database, but actionable insights for the IND prep and filing feasibility and market analysis:
Variant Landscape: Hundreds of unique variants were extracted and classified using industry guidelines. Genomenon identified clusters of pathogenic variants in key protein domains, flagged dozens of previously unreported variants (including new pathogenic or likely pathogenic ones), and revealed that nearly 70% of variants of uncertain significance (VUS) had a reported disease association.
Patient Landscape: Genomenon curated and annotated clinical data for over 500 patients far exceeding initial expectations of just 100-200 patients, which is typical for rare disease. In fact, the director of clinical development at the client shared, “This is an impressive body of work. You found a lot of things we were expecting and a lot of things we didn’t expect.”
This richly detailed database encompassed demographics, phenotypes, clinical outcomes, interventions, and lab data. In addition, it uniquely flagged patients with longitudinal follow-up, providing an exceptionally comprehensive view of disease natural history and patient journeys.
The curated content captured not only presenting diagnoses (e.g., hypertrophic cardiomyopathy, Wolff-Parkinson-White, tachyarrhythmias) but also outcomes such as sudden cardiac events, progression to heart failure, and use of interventions like ICDs or cardiac ablation, enabling the sponsor to model both disease burden and therapeutic impact.
Prevalence Analysis: Through a rigorous literature review and industry standard epidemiological approach with improved data and deep introspection and data review, Genomenon calculated disease prevalence in key cohorts, supporting accurate target population and total addressable market (TAM) calculations for IND prep and investor engagement.
AI-Powered, Human-Validated Curation: Genomenon’s AI platform rapidly identified and extracted hundreds of unique variants from over 10 million scientific articles. Each variant was classified using expert review and industry-standard criteria, and a team of expert scientists reviewed the data to ensure accuracy. Notably, Genomenon surfaced previously 11 unreported pathogenic or likely pathogenic variants.
Comprehensive & Flexible Data: The company was able to understand the full range of a rare, inherited cardiac disorder characterized by hypertrophic cardiomyopathy (HCM), ventricular pre-excitation/Wolff-Parkinson-White (WPW), tachyarrhythmias, and progressive conduction disease. Genomenon went beyond basic variant curation by assembling a Patient Landscape of more than 500 individuals, which was more than double the sponsor’s expectations. This database captured demographics, phenotypes, clinical outcomes, interventions, and lab results.
What set this work apart was the inclusion of nearly 100 patients with longitudinal follow-up, providing a rare, time-based view of disease progression. These longitudinal records documented how symptoms evolved, when major cardiac events occurred, and how patients responded to interventions such as ablation, ICD placement, or transplant. This dynamic perspective on disease natural history gave the sponsor a critical advantage: the ability to model event rates and progression timelines for more accurate endpoint design, risk stratification, and regulatory justification. By linking static clinical data with longitudinal insights, Genomenon delivered a rich view of patient journeys, empowering IND prep and filing with a depth of evidence unavailable from RWD.
Regulatory-Grade Transparency: All data delivered was fully reference-cited and traceable to primary literature sources, supporting direct responses to regulatory and scientific partners. Genomenon provided not just raw data, but also a comprehensive executive summary, prevalence methodology, and regulatory review materials empowering the sponsor to confidently answer questions from regulators, investigators, and collaborators with audit-ready evidence.
Building on the foundation of RWE for IND prep, Genomenon delivered Real World Insights (RWI): comprehensive genotype-phenotype correlations, symptom cluster analyses, and a detailed executive summary supporting the sponsor’s scientific and clinical strategy. This deepened understanding of disease burden, natural history, and risk stratification-empowering regulatory interactions and investment narratives.
De-risk and accelerate IND filing: Access patient and variant landscapes far more comprehensive than previously available, ensuring precise inclusion/exclusion criteria, well-informed endpoint definitions, and data-backed recruitment projections.
Inform regulatory and investor engagement: Present transparent, reference-cited evidence on disease prevalence, natural history, and unmet medical need, solidifying confidence among regulators, trial investigators, and financial stakeholders.
Set the stage for clinical and regulatory success: Use high-value RWE and RWI to power regulatory submissions, enhance IND filing feasibility, and generate future peer-reviewed publications.
Maximize market readiness: Integrate prevalence and patient diversity data to guide accurate IND prep, forecast commercial potential, and build strong business cases for the therapy. By grounding prevalence estimates in real-world cohorts such as hypertrophic cardiomyopathy and conduction disorder populations, the sponsor gained a defensible, evidence-based foundation for both IND prep and investor engagement.
We help provide insights into key genetic drivers of diseases and relevant biomarkers. By working together to understand this data, we enable scientists and researchers to make more informed decisions on programs of interest. To learn more about how we can partner together to find your genomic variant solutions, we invite you to click on the link below.
