Management of Confirmed Newborn-Screened Patients With Pompe Disease Across the Disease Spectrum.

Authors:
Debra Day-Salvatore
Debra Day-Salvatore
Saint Peter's University Hospital
United States
Simon A Jones
Simon A Jones
Cardiff University
United Kingdom
Kimitoshi Nakamura
Kimitoshi Nakamura
Kumamoto University
Japan
Torayuki Okuyama
Torayuki Okuyama
National Research Institute for Child Health and Development
Japan
Kathryn J Swoboda
Kathryn J Swoboda
University of Utah School of Medicine
United States
Priya S Kishnani
Priya S Kishnani
Duke University Medical Center
United States

Pediatrics 2017 Jul;140(Suppl 1):S24-S45

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina

After a Pompe disease diagnosis is confirmed in infants identified through newborn screening (NBS), when and if to start treatment with enzyme replacement therapy (ERT) with alglucosidase alfa must be determined. In classic infantile-onset Pompe disease, ERT should start as soon as possible. Once started, regular, routine follow-up is necessary to monitor for treatment effects, disease progression, and adverse effects. Decision-making for when or if to start ERT in late-onset Pompe disease (LOPD) is more challenging because patients typically have no measurable signs or symptoms or predictable time of symptom onset at NBS. With LOPD, adequate, ongoing follow-up and assessments for onset or progression of signs and symptoms are important to track disease state and monitor and adjust care before and after treatment is started. Because numerous tests are used to monitor patients at variable frequencies, a standardized approach across centers is lacking. Significant variability in patient assessments may result in missed opportunities for early intervention. Management of Pompe disease requires a comprehensive, multidisciplinary approach with timely disease-specific interventions that target the underlying disease process and symptom-specific manifestations. Regardless of how identified, all patients who have signs or symptoms of the disease require coordinated medical care and follow-up tailored to individual needs throughout their lives. The Pompe Disease Newborn Screening Working Group identifies key considerations before starting and during ERT; summarizes what comprises an indication to start ERT; and provides guidance on how to determine appropriate patient management and monitoring and guide the frequency and type of follow-up assessments for all patients identified through NBS.

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http://dx.doi.org/10.1542/peds.2016-0280EDOI Listing
July 2017
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