4H Leukodystrophy: Launch of a Proof of Concept Study on a Potential Gene Therapy


The Yaya Foundation for 4H Leukodystrophy, the Research Institute of the McGill University Health Center, the Montreal Children’s Foundation and the University of Massachusetts Medical School Join Forces in a New Six-Figure Project Seeking Treatments for Children Affected by this Rare Disorder


4H gene therapy collaboration

MINNEAPOLIS (September 1, 2021) — The Yaya Foundation for 4H Leukodystrophy, the world’s only organization dedicated to fighting for people affected by 4H (POLR3-Related) Leukodystrophy, is partnering with Dr. Geneviève Bernard of the MyeliNeuroGene Lab at the Research Institute of the McGill University Health Centre (RI-MUHC) and Drs. Guangping Gao and Jun Xie of the Horae Gene Therapy Center at the University of Massachusetts Medical School to develop 4H (POLR3-Related) Leukodystrophy mouse models and study a potential gene therapy for 4H Leukodystrophy.

4H Leukodystrophy is a rare, progressive, genetic neurological disorder that primarily affects children and for which there is not yet a treatment or cure. This six-figure commitment from the Yaya Foundation will enable researchers at the MyeliNeuroGene Lab and Horae Gene Therapy Center to develop and characterize a suite of mouse models that will serve as critical research tools for the 4H Leukodystrophy disease community, as well as develop a pre-clinical gene therapy proof of concept that will help advance discovery of a gene therapy that could one day help patients affected by 4H Leukodystrophy achieve better outcomes.

“I am excited to be partnering with Dr. Gao and the Yaya Foundation on this study,” said Dr. Bernard, a scientist in the Child Health and Human Development Program at the RI-MUHC. “It is only with collaboration between patients, families and researchers with complementary skill sets that we will be able to drive better outcomes for these patients that I care so much about. I am extremely grateful to the Yaya Foundation for their generous commitment to the Montreal Children’s Hospital Foundation in support of this study, which will transform lives.”

“Gene therapy directly targets the underlying disease biology, which I believe has the potential to lead to transformative treatments,” said Dr. Gao. “I am thrilled to be working with Dr. Bernard and the Yaya Foundation on discovery that could bring these kinds of treatments to patients affected by 4H Leukodystrophy.”

Drs. Bernard and Gao each participate in the 4H Leukodystrophy Collaboration Network (#4HLCN), a global research collaborative convened by the Yaya Foundation and comprised of patients, families, researchers, and clinicians working together to accelerate discovery of therapies that will help people affected by 4H Leukodystrophy. The #4HLCN works together as a community to identify and prioritize the highest impact research, find the best people in the world to conduct that research, execute studies, and rapidly disseminate and build upon findings.

“This project is exactly the type of collaboration that the #4HLCN seeks to promote,” said Ron Garber, President of the Yaya Foundation. “We are thrilled to enable partnership among Dr. Bernard, one of the world’s foremost 4H Leukodystrophy experts with Dr. Gao, a preeminent gene therapy leader from outside our disease community. This collaboration will generate important research tools and early data that will de-risk 4H therapy development and make progress towards our ultimate goal, which is a therapy or cure that will enable people affected by 4H Leukodystrophy to live longer, better lives.”

Work on the project will begin immediately. Patients and families interested in learning more about the project are encouraged to contact the Yaya Foundation for 4H Leukodystrophy at info@yayafoundation4HL.org.

This project has been made possible in part by grants from the Chan Zuckerberg Initiative Rare As One Project and the Tallman Family Charitable Fund.

About the Yaya Foundation for 4H Leukodystrophy 

Founded by a group of parents of children with 4H Leukodystrophy, the Yaya Foundation is the only organization in the world dedicated to fighting for patients and families affected by 4H Leukodystrophy. Its mission is to accelerate discovery of therapies and cures that will enable patients affected by 4H Leukodystrophy to live longer, better lives and to provide educational and emotional support to affected families. For more information, please visit www.yayafoundation4HL.org.

About MyeliNeuroGeneLab at Research Institute of the McGill University Health Centre

The MyeliNeuroGene Lab, located at the Research Institute of the McGill University Health Centre in Montreal, Canada, is led by Dr. Geneviève Bernard. Dr. Geneviève Bernard is a pediatric neurologist and clinician scientist. She is in charge of the first and largest leukodystrophy clinic in Canada. She has built a comprehensive research program on leukodystrophies, focusing on 4H (POLR3-related) leukodystrophy, from patients’ bedside, to bench and then back to bedside.

About Horae Gene Therapy Center at the University of Massachusetts Medical School

The Horae Gene Therapy Center at the University of Massachusetts Medical School is dedicated to developing therapeutic approaches for rare inherited disease for which there is no cure, utilizing state of the art technologies to either edit mutated genes that produce disease-causing proteins or introduce a healthy copy of a gene if the mutation results in a non-functional protein. UMass Medical School is consistently ranked as one of the leading medical schools in the nation for primary care education and is ranked 21st nationally in research funding from the National Institutes of Health.