Federal Project Grant Award Summary

The National Institute of Neurological Disorders and Stroke (NINDS) awarded The Children's Hospital of Philadelphia Research Institute a $775,490 Project Grant (CFDA 93.853 – Extramural Research Programs in the Neurosciences and Neurological Disorders) commencing June 1, 2026, and concluding April 30, 2028. The grant supports development and validation of a composite Interferon Signaling Response (ISR) biomarker to guide therapeutic decision-making in Aicardi-Goutieres Syndrome (AGS), a rare heritable interferonopathy. The project leverages the institution's active clinical program managing over 170 affected individuals and operates within the NIH-funded Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN) and the newly established Center for Diagnostic Innovation (CDI) at CHOP.

Deliverables include: (1) transitioning the ISR test to CDI with defined analytic and clinical validity parameters for the intended context of use; and (2) prospective clinical testing of the ISR and therapeutic thresholds in an active AGS therapy program treating more than a dozen newly affected subjects annually. Upon completion, the grant is expected to position the ISR for submission to the FDA through the biomarker qualification program and demonstrate fitness-for-purpose as a disease monitoring biomarker in AGS therapies, with readiness to advance to full clinical biomarker validation.