We had a great meeting yesterday, thanks to Reid and Christy for sharing their perspectives as both professionals and patients/caregivers. Some of the main themes discussed are below along with a few administrative updates:
Meaningful Outcomes Beyond Primary Endpoints
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Patients prioritize different outcomes than traditional clinical measures
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Rett syndrome example: mother wanted daughter to help pivot when getting out of bed vs ability to walk/speak
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ALS patients: retain one finger movement for communication device
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CF patients: willing to trade primary efficacy for reduced liver toxicity
- Need representative patient input, not just success stories
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Side effects and personalized treatment decisions should be captured earlier in development
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Need systematic risk-benefit testing with representative patient groups, not just advocacy leaders
Data Collection During Standard Care: Reid's perspective
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Reid shared his preference to answer questions during standard of care visits rather than separate research appointments
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Best engagement timing: during routine specialist visits while waiting
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Patients already there with caregivers if needed
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Can compartmentalize health discussions to medical appointments
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Reduces burden of additional study visits
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Remote data capture and making participation easier key to long-term follow-up success
Long-term Follow-up Challenges
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Regulators want to follow patients "forever" but patients would hate this
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FDA aspirational statements often impractical - need to push back on specific inflection points
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What happens at geriatric stages, pre/post menopause
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Anchor to actual legal requirements vs guidance wishes
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New comorbidities emerge as patients live longer (CF: bone health, diabetes in adults vs pediatric populations)
Systemic Barriers to Patient Success
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Legislative challenges when patients improve but lose disability benefits
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Transition from pediatric to adult care systems unprepared for survivors
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Patients excluded from trials often also excluded from post-market access
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SMA example: older patients excluded from trials, then conditional access measures motor endpoints irrelevant to advanced disease progression
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Patient priorities: breathing, swallowing, communication vs motor function
Study Design Integration Recommendations
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Engage patients before protocols finalized, not after
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Changed protocols based on patient input: outcome measures, placebo arms, infusion logistics
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Often done too late in development process
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Co-create studies as true partners within disease communities
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Validate novel biomarkers using real-world evidence alongside traditional endpoints
Administrative updates
- Reminder: Webinar on January 8 at 9:45 AM- Gene therapy long-term follow-up studies: regulatory, scientific and operational requirements, challenges and opportunities
- We're underway planning a pre-conference course, please let Lourens, Jamie and I know if you'd like to assist.
- We also are liaising with the Rare Disease SIG to make some plans for Rare Disease Day in February 2026, please also let us know if you'd like to participate in planning.
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Kristen Hahn MPH, PhD
PicnicHealth
Old Lyme CT
+1 (860) 575-3411
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