APBD Research Foundation Pilot Grant

APBD Research Foundation Pilot Grant

Status: ACTIVE
Funder: University of Pennsylvania’s School of Medicine: Orphan Disease Center (ODC)
Amount: Up to US $100,000
Last Updated: August 15, 2025

Summary

The APBD Research Foundation Pilot Grant supports research on Adult Polyglucosan Body Disease (APBD), a rare neurological disorder with no current treatments. This grant encourages basic science or clinical studies focused on biomarker development and understanding disease mechanisms. Proposals should aim for advancements in clinical phenotyping, treatment trial facilitation, and innovative treatment development. Collaborative efforts and resource-sharing statements are recommended, emphasizing the broader implications for neurodegenerative diseases and the utilization of existing disease models.

Overview

NOTE: Applicants must first submit a one-page Letter of Interest (LOI) by August 22, 2025, for review and consideration of a full application submission. By invitation only, full application documents must be submitted by September 26, 2025. Adult Polyglucosan Body Disease (APBD) is an adult-onset, neurological form of glycogen storage disease type IV. APBD is caused by recessive mutations in the glycogen branching enzyme (GBE1) gene. Deficiency of GBE1 results in the pathogenic accumulation of polyglucosan bodies in the nervous system. APBD symptoms typically develop in the fourth or fifth decade of life and include bladder dysfunction, gait disturbance, sensory and motor neuropathy, weakness, and fatigue. Cognitive decline is seen in approximately half of the individuals with APBD. Progressive symptoms lead to wheelchair dependence and premature death. APBD is commonly misdiagnosed as multiple sclerosis, amyotrophic lateral sclerosis, and peripheral neuropathies. There are presently no treatments available for APBD. The primary focus for this grant opportunity is basic science or clinical studies aimed at biomarker development (e.g., neurofilament light chain and glial fibrillary acidic protein assays) that could be used to demonstrate the effectiveness of a therapeutic for APBD. The APBD Research Foundation will also consider research proposals (or resubmission of updated/revised previously submitted proposals) that support: advancing the understanding of mechanisms of the disease, or clinical phenotyping and/or outcome measure identification that will facilitate future treatment trialsdevelopment of approaches that will prevent polyglucosan body accumulation or will facilitate its removal from the central and peripheral nervous systems, ordevelopment of novel treatments. Applicants are encouraged to collaborate with other scientists and clinicians and should include a statement on resource sharing in their proposal. Studies that showcase collaboration and have a strong likelihood of future follow-on funding are highly encouraged. Include a description of your research’s implications for the broader rare and neurodegenerative diseases landscape. Applicants should use existing disease models (i.e., mouse models, cultured skin fibroblasts) and work with existing APBD repositories to bank clinical samples and/or natural history data.

Eligibility

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