Research Highlights

Researchers have recently published an article showing the therapeutic potential for anti-sense oligonucleotides (ASOs) in recovering glycogen branching enzyme (GBE) activity in cells isolated from APBD patients who share the deep intronic mutation of the GBE1 gene.

The estimated global genetic prevalence of GBE1-related diseases — APBD and early-onset forms of Glycogen Storage Disease Type IV included — has been updated from 1 in 325,000 (reported in 2022) to 1/236,000. This updated estimate suggests that up to 34,000 people worldwide could be affected. 

Researchers at Duke University have published a paper that sheds light on the relationship between APBD and Glycogen Storage Disease Type IV (GSD IV) in the scientific journal JCI Insight

Clinicians and researchers from the New York University (NYU) Grossman School of Medicine, in collaboration with the APBD Research Foundation (APBDRF), have published an exciting paper in the Journal of the Neurological Sciences.

Researchers from the University of Texas Southwestern Medical Center (UT Southwestern) and the University of Tokyo have recently published an article describing the mechanistic pathways of APBD, Lafora Disease (LD), and RBCK1-Deficiency disease (RD) — three glycogen storage disorders (GSDs).

Researchers at the Cleveland Clinic have published their findings of a proteomic investigation of APBD that adds to our understanding of the disease’s underlying mechanism. The findings have been published in the scientific journal Frontiers in Neurology. Understanding the pathogenesis of ABPD is important for the development of effective APBD therapies.

Researchers at Duke University and the University of São Paulo (Brazil) have published an enlightening case report describing the clinical course and diagnostic odyssey of seven individuals with APBD in the scientific journal Frontiers in Genetics.