Volunteer for Research
Patient volunteers are the foundation of medical research, serving as the bridge between theoretical science and practical, life-saving treatments.
Both individuals with specific illnesses and healthy volunteers (who serve as control groups), defining the limits of "normal" and comparing against patient groups, are needed. There are different types of research that offer opportunities for participation:
natural history studies that map disease progression
biomarker studies that identify and validate biological biologic indicators of disease and/or response to treatment
treatment trials that test efficacy of a drug
Listed below are the APBD (including other forms of GSD IV) research studies that you, as members of our community, can volunteer for:
Disease Concept Model for APBD and Neuromuscular GSD IV
March 31, 2026
The APBD Research Foundation is partnering with COMBINEDBrain and University of North Carolina - Greensboro to conduct qualitative interviews with patients, caregivers, clinicians, and researchers to develop a disease concept model for APBD and other neuromuscular forms of GSD IV. This research study aims to develop a detailed description of the lived experience of patients with APBD and GSD IV, caregiver challenges, and the impact of specific symptoms.
UCLA New Biomarkers of APBD Study
March 31, 2026
UCLA researchers Gal Bitan, PhD and Brent Fogel, MD, PhD are seeking volunteers for their research study that aims to identify blood-based biomarkers which point to changes in the brain for people who have APBD and other forms of GSD IV. Participation involves blood sample collection and the completion of health questionnaires and assessments.
APBDRF BioBank
February 24, 2026
The APBDRF BioBank -- where patient data, patient biosamples, and patient surveys are linked -- offers academic and industry researchers access to a larger set of biosamples and more data than they may be able to collect themselves. The aim of the APBDRF BioBank is to collect biosamples (blood, plasma, blood cells, urine, and nasal swabs) from across our community, including APBD and early-onset GSD IV patients, individuals with a presymptomatic genetic diagnosis, and unaffected carriers or non-carriers.
GSD IV and APBD Natural History Study
February 17, 2016
Duke University researchers, Priya Kishnani and Rebecca Koch, are looking for individuals diagnosed with GSD IV or APBD to enroll in their natural history study aimed at increasing the understanding of disease progression and supporting treatment development. This study is building a repository of medical information and electronic health records.
Past Opportunities
“Pee for APBD” Study
November 6, 2024 - no longer recruiting
Dr. Berge Minassian and Dr. Mayank Verma at the University of Texas Southwestern Medical Center are working on a research study aimed at looking for urinary biomarkers in urine samples from patients.
Innovative Glycogen MRI Study
November 6, 2024 - no longer recruiting
Nirbhay Yadav, PhD, assistant professor at the F.M. Kirby Center, at the Kennedy Krieger Institute is seeking volunteers for an important study aimed at identifying a biomarker for APBD. Traditional MRIs often reveal structural brain changes in APBD patients. Dr. Yadav is exploring innovative MRI methods that seek to image glycogen itself. If successful, the glycogen images could possibly serve as disease biomarkers.