What are the key takeaways from this The RTW Podcast episode?

Key insights include: **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.

What did Michelle Krueger discuss on The RTW Podcast?

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 topics include: **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..

How long is this episode of The RTW Podcast?

This episode is 22 minutes long. SignalCast provides an AI-generated summary so you can get the key insights in about 3 minutes.

The RTW Podcast

14 Months to Treatment: Breaking Records in Rare Disease Therapy

October 6, 2025

22 min episode · 2 min read

Michelle Krueger

Episode

22 min

Read time

2 min

Topics

Relationships, Investing, Fundraising & VC

AI-Generated Summary

Published Feb 12, 2026

Key Takeaways

✓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.

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.

Notable Moment

Michelle describes praying her daughter had cancer rather than a genetic disease after initial testing, recognizing cancer had established funding and treatment pathways while ultra-rare genetic conditions offered no roadmap. This counterintuitive hope reflects the stark reality that well-funded common diseases provide better survival odds than orphan conditions affecting 40 documented children worldwide.

Know someone who'd find this useful?

Episode Transcript

This treatment could save her or it could kill her, and you don't know. And you're sitting there as a parent, and you're saying, should we really do this? There's a little girl named Ellie whose parents didn't give up in the face of a rare diagnosis, a ticking clock, and a potential path to a cure. In 2025, Ellie received gene therapy treatment for her condition, one of the fastest of its kind ever deployed. And today we have the privilege of hearing her story. Welcome to the RTW podcast. I'm today's host, Stephanie Sirota, Partner and Chief Business Officer leading the strategic partnerships team at RTW Investments. I'm also on the board of the RTW Foundation, the philanthropic arm of RTW powering rare disease research, medical innovation, and local community collaborations. In 2024, we partnered with Eli's team, a foundation established with the singular goal of translating medical research to treatment in record time. Today, we welcome Michelle Krueger, managing director at Alvarez and Marcel transaction advisory group, the cofounder of Ellie's team and Ellie's mother. Michelle, thank you so much for joining us today. I'm so honored and humbled to be here. Why don't you just start telling me about your family? I have a six year old, a four year old, and Ellie, our sweet baby that we're here to talk about today. What was her early infancy like? And were there signs that something was wrong? Pregnancy was completely normal. Birth was normal. She passed all newborn screenings. She ate well. She slept well. Around five months, I remember looking at her and noticing kind of a flicker in her eyes, and it was so quick you would miss it. She also wasn't developing quite as I would expect with the other kids. Did you see a doctor? The Wednesday before Thanksgiving, I couldn't dismiss it anymore. Our pediatrician, I texted her. She was like, just bring her in today. I'll fit her in. She looked at her. She saw the flicker, and she said, I hate to say this, but I think you need to go to the emergency room. We live on the Upper West Side. The parade was getting set up. I mean, all the tourists were in town. The emergency room in New York City is never a fun place, but they were incredible that day. We did every test imaginable, on Ellie. We were there for hours. We got an MRI. And then around two or three in the morning, they said, we don't know. Fast forward to Thanksgiving day, we got home very late, woke up the next day, very somber mood. Dan, my husband, and I kind of put on a happy face for our older kids. We went outside and watched the parade, which goes right by our apartment. And a couple hours later, we got the call. That right there was probably the first miracle that happened for us. Doctor Zachary Grinsman, one of the best …

Get the full transcript (3,918 words) + summary by email — free

One-time email with the complete transcript and AI summary of this episode. No account needed.

One email, no spam. We’ll also show you what SignalCast does.

Browse all The RTW Podcast transcripts →