State of the Science: APBD Research Study and Clinical Trial Landscape
Updated September 2025
¹ - Register for the Columbia University APBD Patient (CAP) Registry here.
Read the 2024 Therapeutic Advances in Rare Disease publication from the CAP Registry here.
² - Learn more about the Duke Natural History Study here.
Read the 2024 JCI Insight publication here.
Access the 2023 Molecular Genetics and Metabolism publication here.
³ - This research study was supported by APBDRF through the 2023 Million Dollar Bike Ride pilot grants. More details regarding the study can be found through these resources:
Presentation from Dr. Rebecca Koch and Dr. Karra Jones - 2024 APBD Scientific & Community Conference
⁴ - This biomarker study was partially supported by APBDRF through the 2024 Million Dollar Bike Ride pilot grants. More details can be found through these resources:
⁵ - This investigation into glycogen MRI as a potential biomarker of APBD was partially supported by APBDRF through the 2024 Million Dollar Bike Ride pilot grants. More details can be found through these resources:
⁶ - Read n-Lorem’s press release on their 2025 publication regarding their ASO for APBD patients with the deep intronic mutation here.
Dr. Orhan Akman discovered the deep intronic mutation and published his findings in 2015. This preclinical foundational work was supported by APBDRF through several research grants. More details can be found through these resources:
“Developing an Antisense Oligonucleotide Therapy for APBD Patients with the Intronic Mutation” presentation from the 2024 APBD Scientific & Community Conference, featuring Dr. Michio Hirano, Dr. H. Orhan Akman, and Dr. Stanley Crooke.
⁷ - To learn more about GHF201, read these resources:
Golden Heart Flower Granted FDA Orphan Drug Designation for GHF-201
“Developing GHF-201 for Clinical Trials” presentation from the 2024 APBD Scientific & Community Conference, featuring Dr. Or Kakhlon, Dr. Alexander Lossos, and Yaniv Glazer.
The foundational scientific research that led to the development of GHF201 was supported by the APBDRF through several grants to Dr. Or Kakhlon from 2017 to 2023. More details regarding Dr. Kakhlon’s work can be found through these resources:
⁸ - Dr. Wyatt Yue’s investigation into small molecule inhibitors of Glycogen Synthase was supported by APBDRF through the 2021 and 2024 Million Dollar Bike Rides. More details can be found through these resources:
⁹ - Research into this AAV-based therapeutic was supported by APBDRF through a 2019 Million Dollar Bike Ride Grant to Dr. Baodong Sun.
¹⁰ - Dr. Felix Nitschke’s research study focused on AAV-based delivery of an enzyme to break down accumulated polyglucosan was supported by APBDRF through a 2020 Million Dollar Bike Ride Grant. More details can be found through these resources: