Developing A "Disease Concept Model" for APBD -- A Collaborative Research Initiative
March 25, 2026
The APBD Research Foundation is excited to partner with COMBINEDBrain on the development of a “Disease Concept Model” for APBD and other neuromuscular forms of GSD IV.
A DCM is a structured framework using qualitative methods, including: interviews and a literature review to capture how a disease impacts patients and caregivers.
Stay tuned! We will be sharing information on how you can get involved.
Working in collaboration with COMBINEDBrain and our Foundation, Holland Whitaker -- a Genetic Counseling student at the University of North Carolina at Greensboro -- will focus her master’s thesis on developing a Disease Concept Model (DCM) for APBD and other neuromuscular forms of GSD IV.
Creating the DCM entails the following:
Developing an interview guide using information about APBD from the scientific literature
Interviewing a diverse set of people with knowledge of the condition (patients, caregivers, clinicians, researchers, etc.) using the interview guide
Working with the data collected from the interviews to write up the findings for publication in a scientific journal.
The DCM provides a comprehensive picture of the disease, including manifestations that often are under-reported in the clinic and the literature. It also provides a roadmap to what would constitute improvement(s) in the disease as defined by patients. As a research tool, it helps bridge the gaps in medical knowledge; define key clinical endpoints; and align research with patient priorities.
Natacha Pires, MS -- the APBD Research Foundation’s Executive Director -- shared, “Developing this research resource will help us better translate patient experiences into clinical trial outcomes, identify key disease symptoms as treatment targets, and find optimal timepoints for treatment interventions. This will be invaluable to our collaborations with researchers, industry partners, and regulatory agencies (such as the US Food & Drug Administration) to launch clinical trials.”