Venture philanthropy in rare disease therapy

Purpose

Rare diseases affect ∼350 million people globally, yet 94 % of those affected lack effective treatments due to funding gaps and high R&D costs. Traditional investment models often fail due to a combination of small patient populations and limited commercial return. This study investigates venture philanthropy (VP) as an alternative model that merges philanthropic goals with venture capital strategies to accelerate the development of rare disease therapies. The research explores (i) VP’s impact on financial sustainability, translational efficiency, and clinical advancement; (ii) the structural, operational, and strategic factors influencing VP-funded biotech outcomes; and (iii) the utility of the DACMAR (Disruption, Adoption, Collaboration, Management, Adaptability, and Resource Optimization) framework in optimizing VP investments.

Methods

A mixed-methods design was employed. Data sources included (i) stakeholder focus groups to identify key issues in rare disease VP; (ii) semi-structured interviews with 15 stakeholders, including funders, advocates, and biotechnology company executives; (iii) a systematic analysis of 26 VP organizations using 30 investment criteria; and (iv) the application of DACMAR to assess best practices. A thematic analysis was applied to the qualitative data to evaluate the alignment between organizational practices and therapeutic advancement.

Findings

Organizations fulfilling multiple DACMAR domains demonstrated improved outcomes, including clinical trial progression and regulatory designations. Disruptive investment in antisense and gene therapies, early regulatory engagement (Adopt), and formal collaborations (Collaborate) accelerated trials. Additionally, milestone-based funding (Manage), adaptive decision-making (Adapt), and long-term infrastructure planning (Resource Optimization) enhanced organizational resilience. Persistent barriers included regulatory delays, limited low- and middle- income country engagement, and insufficient data systems.

Conclusion

VP is a viable mechanism for addressing unmet needs in rare disease therapeutics. DACMAR offers a practical, replicable framework for de-risking investments and scaling impact. This work’s findings can inform funders, biotech leaders, and policymakers committed to advancing patient-centered innovation.