ABOUT THE GRANT
Background: Krabbe Disease (KD) is a rare, often fatal neurodegenerative disorder caused by deficient galactocerebrosidase enzyme
activity. Early detection through newborn screening (NBS) is critical, especially for the infantile form, where timely treatment significantly
alters the disease course. However, KD presents across a broad spectrum, and current screening methods often leave clinicians and
families with significant uncertainty.
Problem / Gap: There is currently no centralized, multi-institutional database accessible to patients and advocacy organizations
that integrates NBS results, genotype, and long-term clinical outcomes to inform risk classification, prognosis, or treatment decisions.
Without a unified platform, efforts to refine classification systems, evaluate prognostic markers, and standardize follow-up care will remain
fragmented and inefficient.
Objective: This project will establish the GenoKrabbe Database—a stakeholder-informed, multi-institutional, web-based platform designed
to collect, organize, and analyze data from individuals who screened positive for or were diagnosed with Krabbe Disease. This platform will
allow for more accurate classification and prediction models for screen positive individuals, and improved counseling and decision-making
regarding use of disease-modifying therapies. The project will help foster multi-institutional collaboration and strengthen connections across
the Krabbe Disease community.
Methods: We will work together with a partner institution to expand and refine an existing IRB-approved database to create a secure,
web-based platform that supports both retrospective (2020–2025) and prospective (through 2035) data collection. The GenoKrabbe
Database will include demographic information, psychosine levels, GALC genotypes, newborn screening results, clinical assessments,
neurodiagnostic testing, treatment history, and longitudinal outcomes. Data will be gathered through electronic surveys and structured
medical record abstraction. Participants will be recruited through clinicians, state laboratories, and advocacy organizations across the U.S.,
with informed consent obtained through a web-based eConsent process. Collaborating institutions, researchers, and advocacy groups
will contribute to the design, data entry, and governance of the platform to ensure alignment with community needs.
Impact: By creating a sustainable, collaborative infrastructure, the GenoKrabbe project will improve the problem of siloed data,
and reduce uncertainty in clinical decision-making, improve classification and monitoring strategies, and guide the timing and application
of disease-modifying therapies. This initiative will empower patients, families, and providers, and serve as a model for rare disease research
networks that connect screening, diagnosis, and real-world outcomes.
ABOUT ROBERT THOMPSON STONE
Robert Thompson Stone, MD is an Associate Professor of Neurology and Pediatrics at the University of Rochester Medical Center and Director of the UR Leukodystrophy Care Center. A pediatric neurologist with expertise in immune-mediated disorders of the nervous system, inherited disorders of white matter, and neurologic complications of childhood brain tumors, Dr. Stone has developed a. particular national role in the care and longitudinal follow-up of children identified with Krabbe disease through newborn screening.
Dr. Stone is one the lead author of consensus recommendations for the classification and follow-up of infants who screen positive for Krabbe disease, work that has shaped clinical decision-making as newborn screening expands across the United States. His research and clinical efforts focus on understanding the early phenotypes of presymptomatic infants, improving the accuracy of risk stratification, and ensuring that families receive consistent, evidence-based guidance during the critical early months of life.
He is the co-Principal Investigator of GenoKrabbe, a project to create the first multi-institutional, patient-accessible genotype–phenotype database for Krabbe disease— linking newborn screening results, genetic variants, clinical features, diagnostic testing, biochemical markers, social determinants of health, and long-term outcomes.