Lessons Learned from Newborn Screening for Pompe Disease and Mucopolysaccharidosis Type I: Early Intervention Influences Outcomes

Pompe disease (PD) and mucopolysaccharidosis type I (MPS I) are life-threatening lysosomal storage disorders manifesting as a spectrum of phenotypes of varied severity, onset, and organ involvement. Although newborn screening (NBS) for PD and MPS I has not yet been adopted in all states despite inclusion in the RUSP, it has provided key learnings in that a positive NBS screen is a critical first step in a diagnostic algorithm. An early diagnosis and the establishment of the right phenotype is essential for disease management of both PD and MPS I because earlier initiation of treatment is associated with markedly better clinical outcomes, including cognitive outcomes.

This live activity will feature 3 expert faculty and be delivered in a dynamic plenary and case-based format to maximize interactivity, engagement, and retention.

Target Audience

This activity is designed for primary care physicians, genetic counselors, geneticists, neurologists, physician assistants, and other health care professionals interested in the field of genetic diseases.

Learning Objectives

At the conclusion of this activity, participants will be able to:
  • Discuss the phenotype spectrum of Pompe Disease and MPS I
  • Analyze the diagnostic algorithm for Pompe Disease following a positive newborn screen
  • Review treatment approaches for Pompe Disease and the importance of early initiation of treatment
  • Analyze the diagnostic algorithm for MPS I following a positive newborn screen
  • Review treatment approaches for MPS I and the importance of early initiation of treatment
Additional information
ABMS Core Competencies: 
Patient Care and Procedural Skills
Medical Knowledge
Available credit: 
  • 1.50 AMA PRA Category 1 Credit™
  • 1.50 Participation
Activity opens: 
Activity expires: 
  Joseph Muenzer, MD, PhD
  Professor of Pediatrics and Genetics
  University of North Carolina at Chapel Hill
  Chapel Hill, North Carolina

  Barbara K. Burton, MD
  Professor of Pediatrics
  Northwestern University
  Feinberg School of Medicine
  Attending Physician
  Division of Genetics,
                            Birth Defects and Metabolism
                            Ann & Robert H. Lurie
                            Children’s Hospital of Chicago
                            Chicago, Illinois

  Priya S. Kishnani, MD
  C.L. and Su Chen Professor of Pediatrics
  Department of Pediatrics
  Division of Medical Genetics
  Duke University Medical Center
  Durham, North Carolina
  Darrel J. Waggoner, MD
  Clinical Professor of Human Genetics
  Medical Director, Human Genetics
  Pritzker School of Medicine
  The University of Chicago
   Chicago, Illinois

Disclosure Declarations
As a provider accredited by the ACCME, The University of Chicago Pritzker School of Medicine asks everyone who is in a position to control the content of an education activity to disclose all relevant financial relationships with any commercial interest. This includes any entity producing, marketing, re-selling, or distributing health care goods or services consumed by or used on patients. The ACCME defines “relevant financial relationships” as financial relationships in any amount occurring within the past 12 months, including financial relationships of a spouse or life partner that could create a conflict of interest. Mechanisms are in place to identify and resolve any potential conflict of interest prior to the start of the activity.

Additionally, The University of Chicago Pritzker School of Medicine requires authors to identify investigational products or off-label uses of products regulated by the US Food and Drug Administration, at first mention and where appropriate in the content.

Physician Credit
This activity has been planned and implemented in accordance with the accreditation requirements and policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint providership of the University of Chicago Pritzker School of Medicine and Miller Medical Communications, LLC. The University of Chicago Pritzker School of Medicine is accredited by the ACCME to provide continuing medical education for physicians.
The University of Chicago Pritzker School of Medicine designates this enduring activity for a maximum of 1.50 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
Other Healthcare Professions Credit
Nurses and other healthcare professionals will receive a Certificate of Participation. For information on the applicability and acceptance of Certificates of Participation for educational activities certified for AMA PRA Category 1 Credit™ from organizations accredited by the ACCME, please consult your professional licensing board.
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