CHAMP1ResearchFoundation

We're excited to share another important investment in CHAMP1 research! 💙

The CHAMP1ResearchFoundation Board recently presented Dr. Raphael Molina of Elizabethtown College with a $29,500 research grant to investigate a fundamental question about CHAMP1 disorder: What happens when a CHAMP1 mutation produces a shortened, or truncated, CHAMP1 protein?

Dr. Molina's project will study the structure and function of mutated CHAMP1 and investigate whether these altered proteins contribute to disease through loss of normal CHAMP1 function or through potentially harmful effects of the truncated protein itself. His team will examine these proteins in cells, study their effects on cell viability and protein interactions, and explore approaches such as selectively silencing the mutated CHAMP1 copy.

Understanding how CHAMP1 mutations cause disease is an essential step toward identifying meaningful therapeutic strategies.

We are incredibly grateful to our families, donors, Board members, and supporters who make investments like this possible, and we are excited to welcome Dr. Molina and Elizabethtown College as partners in our mission to move CHAMP1 research toward treatments.

Together, we are turning hope into research and research into possibilities. 💙🧬🔬

CHAMP1 UK, CHAMP1Foundation - Europe, CHAMP1-Hispano

Day 2 is here! 🎉

Today at the CHAMP1 Research Alliance Family & Scientific Engagement Conference 2026, we shift from the lab bench to the clinic — a full day of clinical talks at CHOP, followed by an afternoon session built just for families.

📋 Today's agenda:

7:55 AM — Breakfast and coffee

9:00 AM — Welcome and introduction

Session 3: Clinical

9:10 AM — ASO Strategies for CHAMP1
Melissa Keenan, La Jolla Labs

9:30 AM — CHAMP1 Disease: Clinical and Genetic Heterogeneity
Marcella Zollino, Fondazione Policlinico Universitario Agostino Gemelli, Rome, Italy

9:50 AM — Cyclical Vomiting Management Strategies
Julie Banda, Medical College of Wisconsin, Children's Wisconsin

☕ Break

10:45 AM — Disease Concept Model for CHAMP1-Related Disorder
Lauren Houvener, Genetic Counselor

11:05 AM — Metformin Trial Update
Jeffrey Roizen, Children's Hospital of Philadelphia

11:25 AM — Supporting CHAMP1 Children: A Step by Step Multidisciplinary Approach
Sara Damilano, Giulia Avola & Carolina Taricco, Centro Puzzle, Italy

🍽️ Lunch

Session 4: Family Orientated

1:00 PM — Science presented for families, with Kozo Tanaka (Tohoku University, Japan) and Stefano Berto (Medical University of South Carolina) sharing their research in family-friendly terms, plus a repeat session from Centro Puzzle's Sara Damilano, Giulia Avola & Carolina Taricco

2:00 PM — Discussion and Q&A

3:00 PM — Close

📺 Can't join us in person? You can watch remotely! Sessions will be streamed on our YouTube playlist: https://www.youtube.com/playlist?list=PLMrwASI29DgI

Follow along and learn more about CHAMP1 Research Alliance at https://chmp.one/conference

"From Cells to Therapy: In Vitro Modeling and Rescue of CHAMP1 Deficiency" — Dr. Marina Bakay, Children's Hospital of Philadelphia Children's Hospital of Philadelphia

This might be the talk title that best captures why we're all here: going from cells in a dish to an actual therapy. Dr. Bakay's work builds in vitro models of CHAMP1 deficiency and tests ways to "rescue" the deficiency — early, essential steps on the path toward a real treatment.

Thank you, Dr. Bakay and the team at CHOP, for pushing this work from the lab bench toward the therapies our families are waiting for.

Novel mouse model with a 35 bp CHAMP1 deletion, and AAV gene therapy exploration" — Mary Furner, Children's Hospital of Philadelphia

Mary walked us through a new CHAMP1 mouse model built with a precise 35 base-pair deletion, and how her team is now putting it through a full battery of standardized behavioral testing — things like the elevated zero maze, Y maze, novel object recognition, and fear conditioning — to carefully map out how this model behaves compared to wild-type mice.

But the part that really got the room's attention was what comes next: exploring AAV-based gene therapy as a way to actually address CHAMP1 deficiency at its source. AAV (adeno-associated virus) is one of the delivery tools already used in approved gene therapies today — seeing it explored here is a real, concrete step toward a treatment strategy for CHAMP1.

Thank you, Mary, and the team at CHOP, for building the models — and now the potential therapies — this community needs.

CHAMP1 mutations and oligodendrocyte development" — Dr. Thomas Durcan, Montreal Neurological Institute, Montreal Neurological Institute and Hospital Library McGill University McGill University Canada

Oligodendrocytes are the cells that build myelin — the insulation that lets neurons send signals quickly and reliably. Dr. Durcan's work looks at how CHAMP1 mutations affect the development of these cells, a piece of the puzzle that could help explain some of the developmental symptoms families see in CHAMP1 syndrome.

Thank you, Dr. Durcan, for bringing your expertise all the way from Montreal to help move this research forward.

Function of CHAMP1 in muscle development and disease" — Dr. Peng-Peng Bi, Center for Molecular Medicine, University of Georgia

CHAMP1 research often focuses on the brain — but Dr. Bi's talk was a reminder that CHAMP1 is a gene with reach beyond neurodevelopment. His lab is investigating what role CHAMP1 plays in how muscle forms and functions, opening a line of research that could help explain symptoms outside the neurological picture entirely.

Thank you, Dr. Bi, for widening the lens on what CHAMP1 touches in the body.

"Functions of CHAMP1" — Dr. Kozo Tanaka, Tohoku University, Japan 🇯🇵 Tohoku University

Dr. Tanaka shared an update on his lab's ongoing (unpublished) mouse model work, showing that losing both copies of CHAMP1 affects survival — fewer homozygous mice appear with each generation — and that the mice who do survive weigh noticeably less than their littermates.

It's a reminder of just how essential this one gene is, and why understanding it at this basic biological level matters so much for everything that comes next.

Thank you, Dr. Tanaka, for continuing this work and sharing it with our community.