Focus on Lysosomal Diseases: New Frontiers for Accelerating Diagnosis and Optimizing Treatment

This webcast is based on a roundtable discussion on the optimal diagnosis and future management of lysosomal diseases. Three experts specializing in Fabry, Gaucher, and Pompe disease will raise key clinical questions and discuss how to overcome barriers in daily clinical practice across the lysosomal disease spectrum. The experts will provide an update on the long-term effects of ERT and highlight the remaining challenges, including the consequences of delayed diagnosis. They will discuss the role and importance of early diagnosis and treatment initiation, and provide perspectives on the recent advances in screening programs for newborn and high-risk populations. Lastly, the experts will address the position of emerging therapies and strategies for the optimal management of lysosomal diseases.


This activity is designed to meet the educational needs of clinical geneticists, pediatricians, nephrologists, cardiologists, neurologists, internal medicine specialists, and other healthcare professionals responsible for the diagnosis, treatment, and management of patients with lysosomal diseases.


After viewing this activity, participants will be able to:

  1. Implement steps in daily clinical practice regarding early diagnosis and early ERT initiation
  2. Discuss recent advances and implementation of screening programs in daily clinical practice
  3. Summarize novel and emerging treatments and recognize their potential role in clinical practice when approved


Priya S. Kishnani, MD, MBBS
C.L. and Su Chen Professor of Pediatrics
Medical Director, YT and Alice Chen Pediatrics Genetics and Genomics Center
Division Chief, Medical Genetics
Duke University Medical Center
Durham, NC, USA

William Wilcox, MD, PhD
Emory University, School of Medicine, Dept. of Human Genetics
Atlanta, GA, USA

Ozlem Goker-Alpan, MD
Section of Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health
Bethesda, MD, USA

Disclosure of Conflicts of Interest

It is the policy of the Elsevier Office of Continuing Medical Education that all faculty, instructors, planners, managers, and other individuals who are in a position to control the content of this activity to disclose any real or apparent conflicts of interest relating to the topics of this educational activity.

The faculty reported the following financial relationships or relationships to products or devices they or their spouse/life partner have with commercial interests related to the content of this CME activity:

FacultyRelationship Identified With:
Priya S. Kishnani, MBBS

Consultant/Advisor: Alexion, Amicus Therapeutics, Inc., Asklepios BioPharmaceutical, Inc., Baebies Inc., Genzyme Corporation (Sanofi Genzyme), Shire, Sucampo Pharmaceuticals, Inc., Vertex

Stock Ownership: Asklepios BioPharmaceutical, Inc., Baebies Inc.

Grant/Research Support: Alexion, Amicus Therapeutics, Inc., Genzyme Corporation (Sanofi Genzyme), Shire

Royalties, Patents: Asklepios BioPharmaceutical, Inc.
William Wilcox, MD, PhD

Consultant/Advisor: BioMarin, Genzyme Corporation (Sanofi Genzyme), Pfizer Inc.

Grant/Research Support: Genzyme Corporation (Sanofi Genzyme), Shire
Ozlem Goker-Alpan, MD

Consultant/Advisor:  Freeline Therapeutics, Sanofi, Shire

Speakers Bureau: Pfizer Inc., Sanofi, Shire

Grant/Research Support: Amicus Therapeutics, Inc., Pfizer Inc., Sanofi, Shire

Note: Dr. Wilcox is also a P.I. (Principal Investigator) for numerous clinical trials and registry contacts with Emory.

Non-faculty: Sandy Breslow; Alison Kemp; Bernard M. Abrams, MD; Joke Artmanni; Megan Cannon, PhD; Marijke Verhaaf; hereby state that neither they nor their spouse/life partner have had any financial relationships to products or devices with any commercials interest related to the content of this activity of any amount during the past 12 months.

Financial Support

This activity has been supported by an independent educational grant from Sanofi Genzyme.

Provider Information

Jointly provided by the Elsevier Office of Continuing Medical Education and Excerpta Medica.

CME Credit (Physicians)

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 Elsevier Office of Continuing Medical Education and Excerpta Medica. The Elsevier Office of Continuing Medical Education is accredited by the ACCME to provide continuing medical education for physicians.

The Elsevier Office of Continuing Medical Education designates this enduring activity for a maximum of 1.0 AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.


For all CME inquiries or special needs, please contact

Disclosure of Unlabeled Use: This educational activity may contain discussion of published and/or investigational uses of agents that are not indicated by the FDA. The Elsevier Office of Continuing Medical Education, Excerpta Medica, and Sanofi Genzyme do not recommend the use of any agent outside of the labeled indications.

Disclaimer: Participants have an implied responsibility to use the newly acquired information to enhance patient outcomes and their own professional development. The information presented in this activity is not meant to serve as a guideline for patient management. Any procedures, medications, or other courses of diagnosis or treatment discussed or suggested in this activity should not be used by clinicians without evaluation of their patient’s conditions and possible contraindications on dangers in use, review of any applicable manufacturer’s product information, and comparison with recommendations of other authorities.

Course summary
Available credit: 
  • 1.00 AMA PRA Category 1 Credit(s)™
  • 1.00 Non-physician
Course opens: 
Course expires: 

Available Credit

  • 1.00 AMA PRA Category 1 Credit(s)™
  • 1.00 Non-physician
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