14 Months to Treatment: Breaking Records in Rare Disease Therapy

What It Covers

Michelle Krueger shares how her daughter Ellie received gene therapy for IRF2BPL-related disease just 14 months after diagnosis in February 2024, achieving one of the fastest rare disease therapy deployments ever. The family founded Ellie's Team, partnered with RTW Foundation, and self-managed drug development to accelerate treatment from research to patient administration.

Key Questions Answered

• •Direct Project Management Model: The family contracted directly with manufacturers, toxicity study labs, and IND writers rather than using a single academic institution as intermediary. This approach eliminated coordination delays and enabled 14-month diagnosis-to-treatment timeline versus typical multi-year timelines, with manufacturing partner Andaline beating their own speed record for gene therapy development.
• •Parallel Pathway Strategy: Ellie's Team pursued four therapeutic approaches simultaneously—ASOs, gene therapy, drug repurposing, and gene editing—while dual-tracking proof of concept studies and manufacturing. They started manufacturing before receiving critical toxicity and efficacy answers, accepting financial risk to compress timelines for a rapidly progressing disease that wasn't responding to standard seizure medications.
• •Proof of Concept Requirements: The team conducted toxicity studies in 150 mice and 5 pigs before human administration, with pigs adding significant cost and time but providing larger animal validation. This highlights the regulatory uncertainty around what FDA requires for ultra-rare disease trials with fewer than 150 known patients worldwide, where standardized protocols don't exist.
• •Brain Delivery Validation: Gene therapy for neurodegenerative diseases must cross the blood-brain barrier and remain in the brain rather than leaking to the liver. Post-treatment liver enzyme monitoring confirmed brain retention, with stable enzymes indicating successful targeting. Efficacy assessment requires 1-3 years as the corrected gene integrates and expresses, making immediate outcome evaluation impossible.
• •Foundation Relay Model: RTW Foundation funded Katherine Meyer's IRF2BPL gene therapy research in October 2023, five months before Ellie's diagnosis, enabling rapid translation when needed. Director Joe Katakowski joined Ellie's Team board, provided scientific advisory on every development call, and helped evaluate ASO developers and manufacturing decisions, demonstrating how pre-existing research infrastructure accelerates patient-specific applications.