APBD RESEARCH FOUNDATION 2025 PILOT GRANT PROGRAM

APBD RESEARCH FOUNDATION 2025 PILOT GRANT PROGRAM is sponsored by Orphan Disease Center, University of Pennsylvania (in collaboration with APBD Research Foundation). The 2025 APBDRF Pilot Grant Program will provide a 1-year grant to support research related to Adult Polyglucosan Body Disease (APBD).

APBD RESEARCH FOUNDATION 2025 PILOT GRANT PROGRAM — Orphan Disease Center APBD RESEARCH FOUNDATION 2025 PILOT GRANT PROGRAM APBD RESEARCH FOUNDATION 2025 PILOT GRANT PROGRAM The 2025 APBDRF Pilot Grant Program will provide a 1-year grant to support research related to Adult Polyglucosan Body Disease.

Either two grants for small, independent project(s) with one PI for up to $50,000 each or one grant for up to $100,000 (if appropriately justified) for a larger, collaborative project will be awarded. 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 trials, or development of approaches that will prevent polyglucosan body accumulation or will facilitate its removal from the central and peripheral nervous systems, or development 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. Please contact the APBD Research Foundation’s Research Manager, Lindsay Gill, Ph. D.

(lindsay@apbdrf. org) with any questions about these resources. We welcome applications from tenure-track faculty, non-tenure-track faculty and postdoctoral fellows (PhD and/or MD); applications submitted by postdoctoral fellows must include a statement of feasibility and support from their faculty mentor.

This opportunity is open to investigators at established academic and research institutions worldwide. We also welcome applications from individuals in a senior position at a non-profit institution or foundation. Collaboration with existing APBD researchers is encouraged but not required.

Letters of Interest (LOI) are due Friday, August 22, 2025 by 8pm ET. Please review the APBD RESEARCH FOUNDATION 2025 PILOT GRANT PROGRAM RFA Guidelines. Complete the Application Form on Submittable.

For any scientific inquiries regarding this grant please email Debbie Requesens For any administrative inquiries regarding this grant please email psom-odcadmin@pobox. upenn. edu Tagged: JumpStart , 2025 , APBD The Wiedemann-Steiner Syndrome Grant Program 2025 The Wiedemann-Steiner Syndrome Grant Program 2025 - Full Application (invitation only)