PMD Foundation Awards $200,000 in Grant Funding for Pelizaeus-Merzbacher Disease Research

NEW JERSEY - With compelling competition for its research grant, the PMD Foundation is pleased to announce the unprecedented funding of two research projects totaling $200,000. Instead of the originally proposed $100,000 grant award, the PMD Foundation has doubled the grant and chosen both Dr. Larry S. Sherman, PhD and a collaborative team led by Dr. Enrico Silvio Bertini, MD, and Dr. Davide Tonduti, MD, to receive a PMD Foundation Research Grant.

Dr. Larry Sherman, of the Oregon National Primate Research Center, will focus on "A Non-Human Primate Model to Identify Secreted Biomarkers of PMD Progression". The project hopes to identify biomarkers, focusing on secreted proteins that could potentially be detected in cerebrospinal fluid or blood, of early-stage Pelizaeus-Merzbacher Disease (PMD). The long-term goal of Dr. Sherman’s study will be to utilize these biomarkers at different stages of the disease to determine how they reflect disease progression. 

“Funding from the PMD Foundation will allow us to use our novel, non-human primate model of PMD to do something that has never been possible before: to identify the changes that occur in the earliest stages of PMD,” Dr. Sherman shared. “This will not only help us understand what happens in the brain during early stages of PMD but also has the potential to identify markers of disease progression that can be used for early diagnosis and to track the progress of disease-modifying therapies in future clinical trials.”

The second grant recipient is Dr. Enrico Silvio Bertini of the Bambino Gesu Paediatric Hospital. Dr. Bertini leads a collaborative team that includes Dr. Francesco Nicita, Dr. Fiorella Piemonte, and Dr. Sara Petrillo, as well as Dr. Davide Tonduti of the V. Buzzi Children's Hospital, Child Neurology Unit - COALA in Milan, Italy. Their research focuses on "Peripheral Profiling of Ferroptosis and Oxidative Biomarkers in PLP1-Related Disorders". The findings will provide a predictive and prognostic panel of ferroptotic, oxidative, and axonal damage biomarkers aimed at staging PMD, monitoring disease progression, and personalizing treatments.

Dr. Bertini is hopeful his research will provide insights into the disease. “Funding provided by the PMD Foundation's research grant will offer us with all the necessary supplies to build up biomarkers by analyzing redox markers in blood, including unbiased mRNA sequencing,” he said. “By combining molecular and clinical data, we hope to obtain new insights on treatment strategies in PLP1-related disorders.”

Dr. Paul Tesar, DPhil, Chair of the PMD Foundation’s Scientific Advisory Board, is optimistic. “Identifying biomarkers is integral to the development of therapies for patients with PMD. There currently is no cure for the disease or a standard course of treatment. The research we are funding will facilitate a better understanding of the disease pathogenesis and enhance the success of upcoming clinical trials for PMD patients.“ 

Board Chair, Dave Manley, who is also a parent of a child with PMD, is equally optimistic. 

“Our families, friends, and supporters have been raising funds for 20 years with the goal of funding life-changing research. As in the past, all funds for research were hard-earned through events like golf tournaments, birthday donations, community parties, and our 5K Walk, Run, and Roll. With our latest request for grant applications, we received a number of applications seeking funding for really compelling research that could help guide the future of PMD treatments. The PMD Foundation Board of Directors voted unanimously in taking the leap of faith to fund the research of Dr. Bertini and Dr. Sherman simultaneously. While this commitment nearly empties our reserves we have faith that our supporters will continue to support our mission so we can fund future projects to achieve a world without PMD.”  

Investigators at established research institutions from the US and around the world applied for the funds in late 2021. Each was committed to therapeutic development and clinical trial readiness for PMD. The applications were reviewed by the PMD Foundation’s Scientific Advisory Board prior to voting to award the Research Grants. 

The grants, providing each recipient $100,000 total over two years ($50,000 per year), remain subject to available Foundation funds and demonstration of progress on the proposed research. The PMD Foundation plans to continue raising funds for further research, including an upcoming 5K Run Walk or Roll for PMD Event