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Weighing the evidence for newborn screening for early-infantile Krabbe disease
Alex R Kemper1, Alixandra A Knapp, Nancy S Green
1Department of Pediatrics and Duke Clinical Research Institute, Duke University, Durham, North Carolina 27705, USA. alex.kemper@duke.edu
Insights
Early hematopoietic stem-cell transplant for Krabbe disease may reduce mortality but has risks. More research is needed on screening accuracy, diagnosis, and long-term outcomes.
Area of Science:
- Neonatal screening
- Rare genetic disorders
- Neurology
Background:
- Krabbe disease is a rare, fatal genetic disorder affecting infants.
- Newborn screening aims to detect conditions like Krabbe disease early.
Purpose of the Study:
- To review evidence on screening, diagnosis, and treatment of early-infantile Krabbe disease.
- To inform decisions about including Krabbe disease in newborn screening panels.
Main Methods:
- Systematic review of MEDLINE and Embase databases (1988-2009).
- Included 13 articles on Krabbe disease screening, diagnosis, or treatment.
Main Results:
- Early hematopoietic stem-cell transplantation (HSCT) may decrease mortality and improve neurodevelopment.
- Limited data suggest potential motor function loss post-HSCT; long-term follow-up is lacking.
- New York's screening identified 25 positive cases out of ~550,000, with 4 high-risk infants; 2 underwent HSCT, one died.
Conclusions:
- Early HSCT appears to impact mortality and morbidity in Krabbe disease.
- Significant knowledge gaps remain regarding screening accuracy, diagnostic strategies, family impact, treatment benefits/harms, and long-term prognosis.
Purpose:
To summarize the evidence regarding screening, diagnosis, and treatment of early-infantile Krabbe disease in consideration of its addition to the core panel for newborn screening as has been done in New York state.
Methods:
Systematic review of articles indexed in MEDLINE and Embase published between January 1988 and July 2009. Thirteen articles describing studies related to screening, diagnosis, or treatment were included in this review.
Results:
Case series studies suggest that allogeneic hematopoietic stem-cell transplantation soon after the development of signs or symptoms of early-infantile Krabbe disease decreases early-childhood mortality and may improve neurodevelopment. However, limited data suggest there may be loss of motor function among some children who undergo transplantation. No long-term follow-up data are available from these case series. Of the ∼550,000 newborns reported to have been screened in New York, 25 tested positive. None of these were clinically recognized to have Krabbe disease prior these results. Four were considered to be high risk for early-onset Krabbe disease. Two were subsequently diagnosed and underwent stem-cell transplantation, of whom one died from complications. No data are available regarding the impact on families of a positive newborn screen.
Conclusions:
Although early treatment with hematopoietic stem-cell transplant seems to alter early-childhood mortality and some of the morbidity associated with early-infantile Krabbe disease, significant gaps in knowledge exist regarding the accuracy of screening, the strategy for establishing diagnosis, the affect of a positive screen on families, the benefits and harms of treatment, and long-term prognosis.
