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Newborn screening for Pompe disease: an update, 2011
1Division of Genetics, Birth Defects and Metabolism, Children's Memorial Hospital, Chicago, IL 60614, USA. bburton@childrensmemorial.org
Insights
Universal newborn screening for Pompe disease is recommended. Early detection and treatment significantly improve survival and function in infants, with ongoing pilot programs expected to confirm its benefits.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Pompe disease is a rare genetic disorder.
- Early intervention in infantile Pompe disease improves outcomes.
- Newborn screening methods for Pompe disease are advancing.
Purpose of the Study:
- To evaluate the evidence supporting universal newborn screening for Pompe disease.
- To assess the benefits of early treatment for infantile Pompe disease.
- To review current and planned pilot screening programs.
Main Methods:
- Review of existing evidence on Pompe disease.
- Analysis of newborn screening methodologies using dried blood spots.
- Evaluation of pilot screening program data.
Main Results:
- Early treatment of infantile Pompe disease prolongs survival and improves cardiac and motor function.
- Several testing methods for newborn screening are available and in pilot testing.
- Ongoing pilot programs are expected to provide data for universal screening recommendations.
Conclusions:
- Universal newborn screening for Pompe disease is strongly supported by current evidence.
- Challenges in managing later-onset Pompe disease are anticipated but surmountable.
- Pilot program results will be crucial for implementing widespread screening.
Abstract:
There is mounting evidence in support of universal newborn screening for Pompe disease. Early treatment of children with infantile Pompe disease, prior to clinical diagnosis, is clearly of benefit in prolonging survival and improving cardiac and motor function. Several testing methods applicable to newborn screening using dried blood spots have been described and several are currently being tested in pilot screening programs. Although challenges remain, particularly in identification of the best strategy for follow-up and management of later onset Pompe disease, these challenges can surely be overcome as they have been with other disorders added to the newborn screening panel. It is anticipated that the results of the several pilot programs currently ongoing or in the planning stages in the United States will provide the data necessary to recommend universal newborn screening for Pompe disease for all infants.
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