The Fourth Partner in Clinical Research
Clinical research partnerships traditionally focus on three key stakeholders: sponsors, contract research organizations (CROs), and research sites. However, a crucial fourth partner often remains overlooked—the patient advocacy group (PAG).
Kari Rosbeck, representing the TSC Alliance, advocates for making early partnerships with pharmaceutical companies a standard practice in drug development. Despite their proven value, patient advocacy groups must continuously demonstrate their importance to potential sponsors. This narrative is changing, particularly through successful collaborations that showcase the transformative impact of early engagement.
TSC Alliance and Aeovian: A Partnership Model
Aeovian Pharmaceuticals exemplifies the benefits of working closely with patient advocacy groups from the earliest stages of development. The company partnered with the TSC Alliance years ago to test an innovative, first-in-class selective mTORC1 inhibitor targeting TSC-related refractory epilepsy.
This relationship has evolved significantly, culminating in a substantial investment toward $55 million in Series B funding from the advocacy group’s endowment fund. This financial commitment demonstrates how patient advocacy organizations can serve as both scientific partners and strategic investors in promising therapeutic development.
Understanding the TSC Alliance Mission
What is Tuberous Sclerosis Complex?
The TSC Alliance serves individuals living with tuberous sclerosis complex, a rare genetic disorder causing generally non-malignant tumors throughout the body. TSC represents the leading genetic cause of epilepsy and ranks among the top genetic causes of autism spectrum disorders.
Comprehensive Organizational Approach
The Alliance pursues a three-pronged mission: catalyzing new treatments, driving research toward curative therapies, and expanding lifelong access to support services for affected families.
Building Comprehensive Research Resources
Two Decades of Research Infrastructure Development
Since 1984, the TSC Alliance has funded critical research initiatives. Their strategic expansion includes:
2006: Launched a natural history database
2014: Initiated a biosample repository
2016: Established a preclinical consortium for industry-academia collaboration
Recent years: Developed a clinical research network
These resources collectively accelerate drug development timelines and reduce barriers for pharmaceutical companies entering TSC research.
The Preclinical Consortium Success Story
The consortium tested Aeovian’s first drug as a co-development project. The Alliance funded initial investigations through a promissory note, which Aeovian later repaid. Positive results from these early experiments directly enabled Aeovian’s initial organizational funding and subsequent development of their first clinical candidate.
Delivering Patient Insights and Scientific Input
Community-Driven Steering Committees
TSC community members serve on preclinical consortium steering committees, providing authentic insights about treatment priorities and quality-of-life concerns. Specialized working groups focus on:
- Epilepsy management
- Tumor growth patterns
- Behavioral manifestations
Advanced Research Models
The consortium maintains five epilepsy mouse models and multiple tumor models that accurately reproduce human disease conditions, enabling more predictive preclinical testing.
Annual Strategic Reviews
Steering committee meetings evaluate compound nominations, screen academic research proposals, and provide industry partners with efficient testing platforms. Industry representatives participate directly in steering committees, ensuring alignment with commercial development timelines.
From Awareness to Scientific Leadership
Strategic Vision Under New Leadership
In 2011, the Alliance hired Dr. Steve Roberds as Chief Scientific Officer. Coming from Pfizer’s drug discovery division, Dr. Roberds brought purposeful focus on accelerating new treatments beyond existing therapies like Everolimus, which manages symptoms but doesn’t cure TSC.
Collaborative Strategic Planning
The 2015 strategic research conference, co-hosted with NIH’s National Institute of Neurological Disorders and Stroke (NINDS) and the Department of Defense TSC Research Program, produced a comprehensive research plan. Two key recommendations—developing the preclinical consortium and establishing a biosample repository—were assigned to the TSC Alliance.
Sustainable Business Model
Under Dr. Roberds’ guidance, the Alliance developed a 2019 research business plan, modeling approaches from successful organizations like the Cystic Fibrosis Foundation and Juvenile Diabetes Research Foundation. This thoughtful, phased approach ensures long-term sustainability.
Engaging Pharmaceutical and Biotech Partners
Impressive Partnership Portfolio
The Alliance has collaborated with 27 industry partners, tested 97 compounds, and advanced 12 clinical candidates, demonstrating substantial capability despite representing an ultra-rare disease population.
Early Engagement is Critical
Successful partnerships begin before clinical compound testing. Companies should engage advocacy groups during early development to:
- Validate unmet medical needs
- Access critical research tools
- Understand realistic patient perspectives
- Incorporate family experiences into trial design
Avoiding the “Rubber Stamp” Approach
When Companies Engage Too Late
Some sponsors approach advocacy groups only when ready to initiate trials, seeking quick approval. The Alliance provides honest assessments of community impact and realistic success predictions, regardless of development stage.
Why Sponsors Delay Engagement
Historically, industry viewed clinicians as sole key opinion leaders. This perspective is evolving as companies recognize that families living with diseases offer irreplaceable insights that clinical experts cannot provide.
The Real Cost of Clinical Participation
Families participating in early clinical trials have taken second mortgages to cover participation costs. Understanding these sacrifices underscores why meaningful, realistic trial designs matter tremendously to patient communities.
Educational Support for Clinical Communities
The Alliance educates community members about all available clinical trials. For Aeovian trials, they facilitate presentations featuring both company representatives and principal investigators, explaining:
- Scientific background of investigational compounds
- Mechanism of action (e.g., mTORC1 selective inhibition)
- Risk-benefit considerations
- Practical participation requirements
This educational role empowers families to make informed decisions about clinical trial participation while respecting their autonomy.
The Future of Advocacy-Pharma Partnerships
The TSC Alliance-Aeovian partnership demonstrates that patient advocacy groups represent strategic partners offering scientific resources, patient insights, and even financial investment. As the industry increasingly recognizes these organizations as essential stakeholders, early collaboration will become standard practice, ultimately accelerating breakthrough treatments for patients worldwide.
