New York, NY – The APBD Research Foundation is pleased to announce the awarding of a $50,303 research grant to Or Kakhlon, PhD at Hadassah-Hebrew University Medical Center for the advancement of a small molecule compound with potential as a treatment for Adult Polyglucosan Body Disease (APBD).
APBD is an adult-onset, neurological form of glycogen storage disease type IV, for which there are presently no treatments to prevent or slow disease progression. This one-year milestone-based grant has been awarded to fund Dr. Or Kakhlon’s research proposal titled “Testing the in vivo efficacy of a promising small molecule in an APBD mouse model.”
This work will focus on developing a small molecule called 088DE9 (also known as compound E). Small molecules are a common type of drug that can enter cells easily because of their low molecular weight and (usually) hydrophobicity. This research will investigate the effect of compound E on disease progression in a mouse model that has the same glycogen branching enzyme (GBE1) mutations as in APBD.
This study builds upon previous research led by Dr. Kakhlon and supported by the APBD Research Foundation. Dr. Kakhlon’s research to develop therapeutics for glycogen storage diseases has also, in recent years, been supported by grants from the Association Française contre les Myopathies, the Israel Innovation Authority, the Israel Ministry of Science and Technology, and the University of Pennsylvania Orphan Disease Center
Dr. Kakhlon shares, “We previously developed an assay to identify small molecules that inhibit polyglucosan body accumulation in APBD patient fibroblasts. We screened over 10,000 small molecules and identified a handful of small molecules that reduce polyglucosan bodies. Compound E is one of these molecules, and additional preliminary research suggests that it has clinical potential for APBD.”
Dr. Kakhlon is an assistant professor in the Department of Neurology at Hadassah-Hebrew University Medical Center and a long-standing member of the APBD Research Foundation’s Scientific Advisory Board. He has been an important contributor to APBD research, co-authoring over ten APBD publications within the past decade alone.
“The commitment of researchers like Dr. Or Kakhlon to the development of treatments for APBD brings hope to individuals and families affected by APBD,” said Jeff Levenson, co-president of the APBD Research Foundation. “This research will generate critical data to advance and de-risk the therapeutic development of a promising compound. It is a step towards our goal of a treatment for APBD and other allied diseases and our vision of a life free of APBD.”