APBD Research Foundation 2025 Rally for Research Grant Series: Duke University Scientist Awarded Pilot Grant to Evaluate Gene Replacement Therapy for APBD and Other Forms of GSD IV
May 19, 2026
The APBD Research Foundation is pleased to announce the third (in a series of three) of our 2025 Rally for Research Pilot Grant Program grant recipients: Rebecca Koch, PhD, RDN at Duke University. Her research project is entitled, Gene Therapy to Treat the Neurophenotype of Glycogen Storage Disease Type IV.
Dr. Rebecca Koch
Investing in scientific, preclinical, and clinical research that paves the way for treatment options for individuals living with APBD and other forms of Glycogen Storage Disease Type IV (GSD IV) is at the core of the APBD Research Foundation’s mission. This year, we are awarding three pilot grants thanks to the 287 donors who raised $150,000 during our 2025 APBD Rally for Research campaign.
Dr. Koch’s study aims to evaluate the potential for nervous system-targeted delivery of gene replacement therapy to treat APBD and other forms of GSD IV. Gene replacement therapy is a type of gene therapy that delivers a functional copy of the affected gene to help make more of the necessary protein. Specifically, this therapy will deliver a functional copy of the GBE1 gene to make more glycogen branching enzyme. This type of therapy is not specific to a certain genetic variant or mutation which means that it has the potential to treat any patient with APBD or other forms of GSD IV.
The APBD Research Foundation previously supported proof-of-concept research on this GBE1 gene replacement therapy through the University of Pennsylvania’s Million Dollar Bike Ride grant to Dr. Baodong Sun in 2019. Dr. Koch’s current study builds on this work to evaluate the effectiveness and duration of the gene therapy in mice when it is administered directly to the brain and spinal cord, an approach that is commonly used for treating neurodegenerative diseases.
Rebecca Koch, PhD, RDN is an Assistant Professor at Duke University School of Medicine in the Department of Pediatrics. Dr. Koch is also an early-career investigator who has actively established herself in GSD IV research through her work in the GSD IV and APBD Clinical Practice Guidelines, her involvement in the GBE1 global genetic prevalence study, and other research efforts. In 2023, she received an MDBR grant as a Co-Investigator with her mentor Dr. Priya Kishnani (Duke University) aimed at gaining a greater understanding of the cells and tissues involved in APBD and how the disease progresses over time. That work has informed their treatment approaches, including how they develop the gene therapy.
Dr. Koch explained, “I am very grateful for the APBD Research Foundation’s investment in this work and for the generous donations that made this possible. Over the years, we have continuously improved our gene therapy approach based on the success of gene therapies for other neurodegenerative diseases. This pilot funding allows us to generate the preclinical data needed to advance the development of a gene therapy for APBD and other forms of GSD IV. ”
The APBD Research Foundation’s Research Manager, Lindsay Gill, PhD, stated, “Gene therapy and the technology surrounding it is an ongoing hot topic for the rare genetic disease community, bolstered by recent media coverage of groundbreaking advances in this type of treatment. It is exciting to see Dr. Koch and the Duke University team continue to develop and optimize their gene replacement therapy approach for all GSD IV patients, including APBD and early-onset GSD IV patients. Dr. Koch’s preclinical research study has the potential to further diversify the landscape of treatment options in the development pipeline for a patient community that is desperately in search of disease-modifying therapies."
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Editor’s Note: This article is the third in a series announcing the 2025 APBDRF-funded research through our Rally for Research Pilot Grants program. The APBDRF is grateful for administrative support from the UPenn Orphan Disease Center’s JumpStart program in managing the announcement, submission, and review processes for our 2025 pilot grant program, as well as the reviewers who made time to provide feedback on the submitted proposals. Most importantly, we’re thankful to our Board, patients, family members, and friends for their generous donations and continued support of APBD and GSD IV research!