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An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
Published on: October 21, 2014
National U.S. Patient and Transplant Data for Krabbe Disease
Gabrielle Ghabash1, Jacob Wilkes2, Joshua L Bonkowsky3,4
1University of Utah School of Medicine, Salt Lake City, UT, United States.
Insights
Hematopoietic stem cell transplantation (HSCT) reduces mortality in Krabbe disease (KD) patients. However, disparities in HSCT access exist based on sex, race, ethnicity, and income, potentially impacting outcomes.
Area of Science:
- Genetics and Genetic Diseases
- Neurology
- Pediatric Hematology/Oncology
Background:
- Krabbe disease (KD) is a severe leukodystrophy resulting from galactosylceramidase gene mutations.
- Early hematopoietic stem cell transplantation (HSCT) can improve outcomes, but data primarily come from single-center studies.
- National patterns and potential disparities in HSCT utilization for KD are not well-characterized.
Purpose of the Study:
- To analyze national trends in HSCT for Krabbe disease in pediatric patients.
- To investigate disparities in HSCT utilization based on demographic and socioeconomic factors.
- To compare outcomes, including mortality, between KD patients who received HSCT and those who did not.
Main Methods:
- Retrospective analysis of 91 Krabbe disease patients aged ≤18 years (November 2015–December 2019).
- Data sourced from the U.S. Children's Hospital Association's Pediatric Health Information System database.
- Outcomes evaluated included HSCT rates, intensive care unit days, and mortality, stratified by age, sex, race/ethnicity, location, and income.
Main Results:
- HSCT was performed in 32% of identified KD patients.
- Patients receiving HSCT had significantly lower mortality rates (31%) compared to those without HSCT (68%).
- Trends indicated higher HSCT rates in males, Asian and White patients, and those from the lowest income quartile.
Conclusions:
- HSCT is associated with reduced mortality in pediatric Krabbe disease patients.
- Significant disparities in HSCT utilization were observed across various demographic and socioeconomic groups.
- Addressing these disparities is crucial to ensure equitable access to potentially life-saving treatment for all KD patients.
Abstract:
Krabbe disease (KD) is a leukodystrophy caused by mutations in the galactosylceramidase gene. Presymptomatic hematopoietic stem cell transplantation (HSCT) is associated with improved outcomes, but most data are from single-center studies. Our objective was to characterize national patterns of HSCT for KD including whether there were disparities in HSCT utilization and outcomes. We conducted a retrospective study of KD patients ≤ age 18 years from November 1, 2015, through December 31, 2019, using the U.S. Children's Hospital Association's Pediatric Health Information System database. We evaluated outcomes for HSCT, intensive care unit days, and mortality, comparing age, sex, race/ethnicity, rural/urban location, and median household income. We identified 91 KD patients. HSCT, performed in 32% of patients, was associated with reduced mortality, 31 vs. 68% without HSCT (p < 0.003). Trends included the fact that more males than females had HSCT (39 vs. 23%); more Asian and White patients had HSCT compared to Black or Hispanic patients (75, 33, 25, and 17%, respectively); and patients from households with the lowest-income quartile (< $25,000) had more HSCT compared to higher-income quartiles (44 vs. 33, 30, and 0%). Overall, receiving HSCT was associated with reduced mortality. We noted trends in patient groups who received HSCT. Our findings suggest that disparities in receiving HSCT could affect outcomes for KD patients.
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