Conference Presentation, Fireside Chat
LeadersLink Eszter Hars
- Project Leadership and Context: Esther Harst, President and CEO of the Schwarzman-Diamond Syndrome Alliance, presented the capstone project, driven by her role as the mother of a patient diagnosed with Schwartzman-Diamond syndrome (SDS) at age one.
- Speaker Background: Harst holds a PhD in molecular biology (cancer/leukemia focus) with over 20 years of biotech experience, including co-founding two startups, managing FDA regulatory approvals for medical devices, and business development at an IT company acquired by Elsevier.
- Disease Profile and Urgency: SDS is a rare genetic disorder affecting the digestive system, immune system, cognition, and most critically, the blood-forming system; approximately one-third of patients develop fatal leukemia by age 30.
- Identified Gap: While fundamental research exists, a critical gap remains regarding "patient voice" data, as existing academic registries focus on extracted medical records rather than patient-entered insights.
- Strategic Objective: The primary goal is to launch a patient-entered data platform to accelerate therapy and cure development for the SDS community.
- Specific Objectives:
- Mobilize, unite, and energize the patient community to increase research participation rates and depth.
- Amplify the patient voice to support clinical trial and therapy development matchmaking.
- Catalyze global collaborations by maintaining an open architecture for adopting various data guides and tokenization tools.
- Implementation Progress:
- The program has secured IRB approval.
- Foreign languages were prioritized in surveys and consent forms from the outset.
- A patient-friendly platform was selected, utilizing validated and structured data elements to support research needs.
- Marketing and communication efforts were tailored to support the specific mobilization and data collection objectives.
- Operational Challenges:
- Developing comprehensive data resources is extremely resource-intensive, posing a significant burden on small teams.
- Securing early buy-in is difficult; success relies on clarity of goals to eventually attract partners who share the mission.
- Patient trust is the most critical asset, requiring dedicated effort to ensure data is used solely for patient benefit.
- Forward-Looking Plans:
- The alliance is ready to enroll patients in a pilot study.
- Plans are in place to expand the platform to the entire SDS community early next year, contingent on pilot learnings.
- Program Acknowledgments: Harst expressed gratitude for the LeadersLink program, specifically citing peer grantees, webinars, mentorship, and a panel of experts as key resources for the project's development.