Newborn screening for Pompe disease: an update, 2011

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.