Advanced Therapies Week 2025: How Do We As An Industry Support Rare Ultra Rare Disease

The video transcript centers on a critical panel discussion about advancing therapies for rare and ultra-rare diseases, highlighting the challenges, innovative solutions, and collaborative efforts necessary to bring effective treatments to patients with these conditions. Deanna Portero, Vice President of Partnerships and Innovation at Orphan Therapeutics Accelerator, moderates the session and introduces expert speakers who emphasize the profound unmet medical need in rare disease communities, the scientific and financial barriers to developing advanced therapies, and potential pathways to overcome these obstacles.

Andrea Boitnott from Elpida Therapeutics presents a new collaborative model that integrates patient advocacy groups, academia, and industry to streamline clinical development for pediatric rare diseases. She highlights that 95% of rare diseases lack FDA-approved treatments, with many promising therapies stalling due to limited patient populations, high development costs, and insufficient industry interest. Elpida’s approach combines phases of clinical trials and leverages flexible trial designs to accelerate development and reduce costs, fostering a powerful triad of stakeholders working toward a shared goal.

Julia Taravella, founder of the Rare Trait Hope Fund, shares a deeply personal story of her children’s struggle with an ultra-rare neurodegenerative disorder and the challenges faced in diagnosis and treatment development. She outlines the stark reality that most ultra-rare diseases are not commercially viable for pharmaceutical companies due to extremely small patient populations and the high cost of drug development. Julia draws an analogy between rare diseases and oil reserves, describing ultra-rare diseases as “technically recoverable reserves” that are currently not economically recoverable, emphasizing the need to shift this paradigm.

The panelists discuss the most significant barriers to advancing gene therapies for rare diseases, including funding shortages, regulatory challenges, patient recruitment, and communication gaps between stakeholders. They underscore the importance of education and awareness, transparent data sharing, and fostering partnerships across the spectrum of patients, researchers, industry, and regulators. The conversation also touches on venture philanthropy and innovative funding models as essential components to sustain and grow therapeutic development in this space.

The session concludes with a call to action for Advanced Therapies Week 2025 attendees and industry representatives to engage actively with rare disease stakeholders, understand their needs, and contribute meaningfully, whether through funding, in-kind support, or advocacy, to accelerate the delivery of life-saving therapies to patients worldwide.

Highlights

• Rare and ultra-rare diseases affect millions globally, yet 95% remain without approved treatments.
• Elpida Therapeutics champions a collaborative model integrating patient advocacy, academia, and industry to accelerate clinical development.
• Julia Taravella’s personal journey highlights the diagnostic and therapeutic challenges in ultra-rare diseases.
• Funding remains the most critical barrier, with traditional investors often deterred by low commercial returns.
• Innovative trial designs and data sharing can reduce costs and speed up therapy development.
• Communication and education are vital to bridge gaps across stakeholders and empower patient communities.
• The panel calls for proactive engagement and novel partnerships, including venture philanthropy, to advance rare disease treatment.

Key Insights

• The Biological Rationale for Advanced Therapies in Rare Diseases: Since 80% of rare diseases are monogenic, gene and cell therapies offer an unrivaled opportunity for curative treatments. However, harnessing these advanced platforms requires overcoming significant scientific and operational hurdles, such as understanding disease biology and designing tailored delivery methods, especially for neurological conditions.
• Collaborative Triad as a Strategic Imperative: Effective advancement depends on integrating patient advocacy groups, academic researchers, and industry partners into a cohesive consortium. Patient advocates provide critical insights and community engagement, academia delivers scientific innovation and clinical infrastructure, industry offers manufacturing, regulatory expertise, and commercialization pathways. This model, exemplified during Advanced Therapies Week 2025, optimizes resource use and aligns diverse goals toward patient-centered outcomes.
• Accelerating Clinical Development through Trial Innovation: Traditional multi-phase clinical trials are often prohibitively expensive and slow for rare diseases with limited patients. Combining Phase 1-3 trials, employing open-label designs, and using decentralized and alternative control arms can create efficiencies that reduce time and cost without compromising rigor, ultimately expediting patient access to therapies.
• Ultra-Rare Diseases as “Technically Recoverable Reserves”: Julia Taravella’s analogy likens ultra-rare diseases to oil reserves that are known but not economically viable to exploit under current conditions. This framework calls for innovative financial and operational models to transform these technical opportunities into practical, fundable development projects, emphasizing tailored funding mechanisms and partnerships.
• Funding Challenges and the Need for New Investment Paradigms: The panel highlights a critical funding gap exacerbated by high development costs, small patient populations, and limited commercial incentives. Government grants, philanthropic support, and venture philanthropy are crucial to bridge this gap. Investors need to be educated on the unique value proposition and social impact of ultra-rare disease therapies, shifting the focus from purely financial returns to shared mission-driven goals.
• Communication as a Catalyst for Progress: There is a pervasive lack of knowledge and communication in the ultra-rare disease space, with a small number of researchers and clinicians working in silos. Improving communication channels, internally among stakeholders and externally toward patients and families, is essential to increase awareness, recruit patients for trials, share data, and advocate for regulatory and funding support.
• Empowering Patient Communities Through Education and Engagement: Patient advocacy groups are indispensable in educating families about gene therapy, navigating clinical pathways, and managing expectations. By providing accessible resources, publishing clinical protocols, and fostering connections, organizations like Elpida Therapeutics and the Rare Trait Hope Fund empower patients and caregivers to become active participants in the development process.
• Balancing Scientific Rigor with Practical Realities: Regulatory frameworks often impose rigid requirements that do not fit well with the realities of rare disease drug development. The panel calls for adaptive regulatory approaches that accommodate innovative trial designs and smaller patient cohorts while maintaining safety and efficacy standards, enabling more feasible paths to approval.
• Venture Philanthropy and Strategic Partnerships as Enablers: Combining philanthropy with venture investment principles creates sustainable funding streams and encourages collaboration between nonprofits, biotech companies, and academic centers. Shared risk, in-kind contributions, and priority review vouchers are mechanisms to align incentives and distribute benefits fairly among stakeholders.
• Actionable Steps for Industry Stakeholders: The panel encourages Advanced Therapies Week 2025 attendees and industry leaders to proactively engage with rare disease groups, inquire about immediate needs, and develop internal programs for support, including donations, employee engagement, and CSR initiatives, to catalyze tangible progress over the next 12 months.

Speakers:

• Deanna Portero – VP, Partnerships & Innovation, Orphan Therapeutics Accelerator (Chair)
• Andrea Boitnott – Business Development & Strategy, Elpida Therapeutics
• Julia Taravella – Executive Director, Rare Trait Hope
• Susan Brisendine (Sikora) – VP, Stakeholder Collaboration, NephCure
• Dr. Souad Messahel – Head of R&D, Elpida Therapeutics

Conclusion
The video transcript presents a comprehensive exploration of the complex ecosystem surrounding rare and ultra-rare disease therapy development. It underscores the urgent unmet medical needs, the transformative potential of gene and cell therapies, and the multifaceted barriers, scientific, financial, regulatory, and communicative, that impede progress. Through compelling personal stories, innovative collaborative models, and candid discussion of challenges at Advanced Therapies Week 2025, the panel delivers a call to action for all stakeholders to unite, innovate, and invest in solutions that can bring hope and life-changing treatments to underserved patients worldwide.