The APBD Research Foundation is pleased to share that Matthew Gentry, PhD (University of Florida) and Berge Minassian, MD and Mayank Verma MD, PhD (UT Southwestern Medical Center) are the recipients of rare disease research grants from the University of Pennsylvania’s Million Dollar Bike Ride (MDBR) program. 

From left to right: Matthew Gentry, PhD, Berge Minassian, MD, and Mayank Verma, MD, PhD.

For the seventh consecutive year, the Foundation partnered with the University of Pennsylvania’s Orphan Disease Center to participate in the MDBR program for rare disease research. This program provides a one-year pilot grant to support research related to a rare disease represented in the Million Dollar Bike Ride. 

Last June, the APBD Research Foundation and the APBD Tour de Friends biking team raised $69,354 and received a maximum match from the Orphan Disease Center for $30,000 additional. Then, in the fall, APBD researchers worldwide were invited by the Orphan Disease Center to submit proposals for grant support. 

Dr. Matthew Gentry is the chair of the department of biochemistry and molecular biology at the University of Florida. His project is a collaboration with Dr. H. Orhan Akman of Columbia University. Dr. Gentry’s winning proposal, “Defining APBD pre-clinical biomarkers and assessing a therapy in an APBD mouse model aims to: 1) identify APBD biomarkers by defining the brain metabolic perturbations in an APBD mouse model; and 2) assess an enzyme therapy as a pre-clinical APBD treatment in the same mouse model. 

Dr. Gentry shared, “My team and I have developed techniques and pre-clinical therapies for a similar glycogen storage disease. This funding allows us to utilize these techniques and test these therapies in APBD mouse models. This work is a critical step towards moving to the clinic.” 

Dr. Berge Minassian is a professor in the Departments of Pediatrics, Neurology, and Neuroscience at UT Southwestern. He is also the Division Chief of Child Neurology at UTSW Medical Center. Dr. Mayank Verma is a Child Neurology fellow in his laboratory. Their winning proposal titled, “Glucan fingerprint as biomarker in APBD” aims to test for breakdown products of polyglucosan bodies in urinary samples of mouse models and patients.

The central paradigm in APBD is excessive and abnormal glycogen in the central nervous system. While it is impossible to non-invasively measure this glycogen, its breakdown products can be measured in the urine of APBD model mice. Dr. Minassian and his team have devised a technique to profile many of these glycogen breakdown products and showed evidence of being able to use such molecules in the urine of APBD model mice. 

Dr. Verma shared, “With the funds from the MDBR program, we aim to translate biomarkers that we found in animal models of APBD into biomarkers for patients with APBD. We hope that by having a non-invasive urine test, we can recruit a vast number of patients in different stages of the disease. This can serve as an objective measure to track disease progression which would be instrumental in preparation for any clinical trial for APBD.”    

Susan Coddon, a member of the APBD Research Foundation’s Board of Directors shared, “Finding treatments and a cure for APBD was important to me when my husband LD was alive; it is just as important today. Our partnership with the UPenn Orphan Disease Center has enabled the Foundation to advance critical APBD research and accelerate promising discoveries. I am grateful to every supporter, the Orphan Disease Center, Dr. Gentry, Dr. Minassian, and Dr. Verma for their commitment to APBD research and giving patients and families hope and a future.”

On June 10, the APBD Research Foundation will be participating in the 2023 Million Dollar Bike Ride – once again, bringing the APBD community together to accelerate research.