APBDRF BioBank -- Powering and Advancing Research Breakthroughs
The APBD Research Foundation has partnered with COMBINEDBrain to establish the APBDRF BioBank to collect and catalog biosamples – blood, plasma, urine, and nasal swabs – throughout the GSD IV community.
The BioBank includes and seeks samples from:
individuals diagnosed with early-onset GSD IV (Anderson Disease)
individuals diagnosed with adult-onset GSD IV (APBD)
individuals with a presymptomatic genetic diagnosis of APBD
GBE1 carriers and unaffected family members.
These samples are paired with patient health data through the COMBINEDBrain Matrix portal that can include electronic health records, genetic reports, and patient-reported outcome surveys. The samples and linked patient data – together – make up a comprehensive resource of patient biosamples linked with natural history data. With time, we plan to build upon every year – creating a resource that represents a large, longitudinal cohort of GSD IV patients.
Why is the APBDRF BioBank important?
A centralized patient-driven APBDRF BioBank provides researchers with the resources needed to uncover disease biomarkers and evaluate the effectiveness of candidate drugs in patient samples. Biomarkers are a crucial tool for diagnosing disease, measuring disease progression, and evaluating whether a drug is effective in treating disease. Ultimately, it is difficult to fix what cannot be measured – and biomarkers are the solution.
The cells isolated from patient blood samples can be used to test whether potential new drugs are able to treat the biological changes associated with GSD IV – like enzyme activity, glycogen metabolism, or polyglucosan accumulation. These cells can also be used to generate other types of cells – like those from the brain, spinal cord, muscle, or liver – that can make a model of what happens in the tissues affected by GSD IV.
This collection of biosamples also can support researcher-initiated studies from scientists, clinicians, and industry partners. As a Foundation-led initiative, we have the opportunity to connect with all APBD and GSD IV patients and families across the United States to collect samples for the BioBank. This will provide a larger and more diverse cohort of patients’ biosamples than what may be found at a specific academic institution – meaning biosamples can be studied from more patients.
Getting involved in GSD IV research has never been easier!
We can collect blood, urine, and nasal swabs from the convenience of your home with no cost to you! Once we gather some initial information from our APBDRF BioBank Recruitment Survey, the biorepository team at COMBINEDBrain will reach out to you to complete consent forms and surveys, ship you a collection kit, and schedule your personal visit from a trained phlebotomist. Using your CRID, your biosamples will be collected to the information provided in the health surveys you completed to help researchers understand what APBD or early-onset GSD IV look like for you or your family.
Haven’t created your Clinical Research ID (CRID) yet?
Visit our website – Create your Clinical Research ID – to learn about the CRID and read step-by-step instructions on how to create your own! If it’s easier for you to follow along with a video, check this out: APBD Patient Chat: Creating a Clinical Research ID.
Are you interested in participating? Fill out our APBDRF BioBank Recruitment Survey! This survey collects the information we need to schedule a collection for you with our partner, COMBINEDBrain.
One essential role of the APBDRF BioBank is to provide easier access to biosamples to support researcher-initiated studies. Whether you are planning to recruit patients to participate in a new study and need a larger sample size for statistical power or you are interested in studying GSD IV but do not have access to samples or the capability to collect them – the APBDRF BioBank is here to help support your research.
To see the current catalog of patient samples available in COMBINEDBrain’s cross-disease biorepository or submit a sample request, visit COMBINEDBrain’s Request Samples from the COMBINEDBrain Biorepository page. To identify what GSD IV samples are available, search for “GBE1.” Requests for GSD IV samples are reviewed by the APBDRF biorepository governance appointees to ensure alignment of the proposed research with APBDRF and community research priorities.
Contact us if you have:
Questions about what types of samples are available in the APBDRF BioBank;
Questions regarding whether your proposed project using banked biosamples aligns with APBDRF’s mission and research priorities;
Existing biosamples from GSD IV patients, including early-onset and/or adult-onset (APBD) that you are interested in transferring to the APBDRF BioBank; or
General questions about the APBDRF BioBank.
If you have any questions about the APBDRF BioBank, please contact the APBDRF Research Director, Lindsay Gill, Ph.D. at lindsay@apbdrf.org.