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On May 17, 2013 - in a long awaited meeting in Washington DC (USA), the Secretary's Discretionary Advisory Committee for Heritable Disorders in Newborns and Children (DACHDNC), recommended the addition of Pompe Disease to the recommended uniform newborn screening panel (RUSP). The letter to the Secretary will highlight the need for states currently implementing Pompe screening to coordinate activities and help establish a framework for state-based screening. The committee considered both the significant benefit to screening for infantile as well as the need for more studies about the optimal management of those with late onset.

Screening is based on measuring enzyme activity and genotyping is used to diagnose the condition as well as identify carriers, predicts infantile versus late onset disease. Treatment for Pompe Disease is enzyme replacement therapy.

The state Missouri began screening for Pompe Disease on January 15, 2013. In the first four months of this screening, 1 classic infantile baby was found while 7 others needed further examination.

One of the biggest concerns regarding implementing population screening for Pompe Disease is that the majority of people identified through screening would have the late onset variation of the condition, meaning they would not be symptomatic until after childhood. Screening for conditions that impact children early in life is a cornerstone of newborn screening. Alex Kemper, MD, MPH, MS, who gave the report from the Condition Review Workgroup, mentioned that there are processes for follow up for those identified with late onset.

Source: Genetic Alliance in the USA

 


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