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Newborn screening for Krabbe disease: the New York State model
Patricia K Duffner1, Michele Caggana, Joseph J Orsini
1Hunter James Kelly Research Institute, Department of Neurology, University at Buffalo, State University of New York, Buffalo, New York, USA. duffner@buffalo.edu
Pediatric Neurology
|March 24, 2009
Summary
Newborn screening for Krabbe disease in New York State improved early diagnosis and treatment. A multidisciplinary approach standardized evaluation, enhancing outcomes for infants with this rare neurologic disorder.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Krabbe disease is a rare inherited neurologic disorder impacting the central and peripheral nervous systems with varied phenotypes.
- Hematopoietic stem cell transplantation is the only treatment, most effective before symptom onset in early infantile cases.
- New York State initiated newborn screening for Krabbe disease in 2006, utilizing enzyme activity and DNA mutation analysis.
Purpose of the Study:
- To enhance the effectiveness of the Krabbe disease newborn screening program.
- To address limitations in predicting phenotype from enzyme activity or genetic mutation.
- To establish a standardized, multidisciplinary approach for evaluating and managing infants with positive screening results.
Main Methods:
- Development of a standardized clinical evaluation protocol based on existing literature.
- Formulation of transplantation criteria for the early infantile phenotype.
- Creation of a clinical database and registry, and initiation of a developmental outcomes study.
Main Results:
- A multidisciplinary consortium developed standardized protocols and criteria.
- A clinical database and registry were established to track outcomes.
- A study on developmental and functional outcomes was instituted.
Conclusions:
- A standardized, multidisciplinary approach improves the evaluation of infants with positive Krabbe disease newborn screening results.
- This model can guide other states in screening for Krabbe disease and other lysosomal storage disorders.
- Enhanced newborn screening and standardized evaluation are crucial for managing rare genetic neurologic disorders.
