Screening & Treatment of Pompe Disease: Clinical Advances in a Changing Landscape

How rare is a rare disease?
While the number of people affected by an individual rare disease may be small, the total number of people with a rare diseases—an estimated 25 to 30 million in the United States—is enormous!

This BRAINWeek live, virtual stemINAR has been developed for specialists and frontline practitioners treating CNS disorders associated with rare or common diseases.

What is Pompe disease?
It is a glycogen storage disease type II and considered to be a rare inherited autosomal recessive disorder caused by mutations in the gene that encodes for acid alpha-glucosidase (GAA).

What are its symptoms?
Symptoms include muscle weakness, myopathy, an abnormally large heart, muscle pain over a large area, loss of ability (or difficulty) exercising, trouble breathing, lung infections, weight loss, headaches, tiredness, and delayed development. Deficiencies in GAA can result in the disruption and disablement of cellular function in smooth muscle, the heart, the diaphragm, and other skeletal muscles. It is often fatal, with an average life expectancy (depending on onset) between 30 and 50 years; the average life expectancy in classic infantile Pompe disease is less than 2 years.

How is it diagnosed?
Pompe disease can be confirmed through GAA enzyme activity tests or through genetic screening. There needs to be a sequential and differential evaluation of medical causes like hypothyroidism, sepsis, malnutrition, malabsorption, and congenital heart disease, an evaluation of neurological etiologies (central or cerebral and peripheral or lower motor unit), and anatomic characteristics of abnormality.

This activity is supported by an educational grant from Spark Therapeutics.

This activity is provided by Global Education Group.”

 

Learning Objectives

  • Describe the pathogenesis and diagnostic algorithm of Pompe disease
  • Summarize the impact of Pompe disease on a person’s quality of life and the unmet need for patients
  • Outline the progressive nature of Pompe disease and the importance of early initiation of treatment
  • Review current treatment options for Pompe disease
  • Discuss emerging therapies and the changing treatment landscape of Pompe disease

Additional Information

AttachmentSize
PDF icon Slides and Disclosures4.56 MB
Course summary
Available credit: 
  • 1.00 AANP
  • 1.00 ACCME (All Other)
  • 1.00 ACCME (MD/DO Only)
  • 1.00 ACPE Pharmacy
  • 1.00 ANCC
Course opens: 
12/17/2022
Course expires: 
12/17/2022
Rating: 
0

 

Tahseen Mozaffar, MD, FAAN
Professor of Neurology,
Orthopedic Surgery, Pathology, and Laboratory Medicine
University of California, Irvine

Target Audience

The educational design of this activity addresses the needs of Healthcare providers who treat and manage neurologic conditions, including Internists, Neurologists, Neuromuscular Specialists, Lysosomal Disease Specialists, Genetic Counselors, Pediatricians, Geneticists, Nurse Practitioners, Primary Care Physicians, Physician Assistants, Pharmacists.

Statement of Need

It is critical for healthcare providers to be able to recognize the signs and symptoms of the mental health disorders that may be affecting their patients as they navigate the challenges of the COVID-19 pandemic. Accurate diagnosis is essential in order to offer effective treatments or to make appropriate referrals to specialists, when necessary. Healthcare professionals can strengthen their diagnostic skills to better evaluate for the presence of depressive and anxiety disorders. 

Educational Objectives

After completing this activity, the participant should be better able to:

  • Describe the pathogenesis and diagnostic algorithm of Pompe Disease
  • Summarize the impact of Pompe Disease on a person’s quality of life
  • Identify the unmet needs of patients with PD
  • Outline the progressive nature of Pompe Disease
  • Discuss the importance of early initiation of treatment
  • Review current treatment options for Pompe Disease
  • Discuss emerging therapies and the changing treatment landscape in regards to Pompe Disease

Faculty

Tahseen Mozaffar, MD, FAAN
Professor of Neurology,
Orthopedic Surgery, Pathology, and Laboratory Medicine
University of California, Irvine

Physician Accreditation Statement
Global Education Group is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians.

Physician Credit Designation
Global Education Group designates this enduring activity for a maximum of 1.0 AMA PRA Category 1 Credit™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Nursing Continuing Education
Global Education Group is accredited with distinction as a provider of nursing continuing professional development by the American Nurses Credentialing Center's Commission on Accreditation.

This educational activity for 1.0 contact hours is provided by Global Education Group. Nurses should claim only the credit commensurate with the extent of their participation in the activity.

Pharmacist Accreditation Statement

Global Education Group is accredited by the Accreditation Council for Pharmacy Education as a provider of continuing pharmacy education.

Credit Designation
Global Education Group designates this continuing education activity for 1.0 contact hour(s) (0.1 CEUs) of the Accreditation Council for Pharmacy Education. (Universal Activity Number - coming soon.)
This is a knowledge-based activity.

Global Contact Information
For information about the accreditation of this program, please contact Global at 303-395-1782 or cme@globaleducationgroup.com.

Instructions to Receive Credit
In order to receive credit for this activity, the participant must attend the live webinar and complete the evaluation that will be sent via email the week after the webinar concludes.

Fee & Refund/Cancellation Policy
There is no fee for this educational activity.

Disclosure of Conflicts of Interest
Global Education Group (Global) adheres to the policies and guidelines, including the Standards for Integrity and Independence in Accredited CE, set forth to providers by the Accreditation Council for Continuing Medical Education (ACCME) and all other professional organizations, as applicable, stating those activities where continuing education credits are awarded must be balanced, independent, objective, and scientifically rigorous. All persons in a position to control the content of an accredited continuing education program provided by Global are required to disclose all financial relationships with any ineligible company within the past 24 months to Global. All financial relationships reported are identified as relevant and mitigated by Global in accordance with the Standards for Integrity and Independence in Accredited CE in advance of delivery of the activity to learners. The content of this activity was vetted by Global to assure objectivity and that the activity is free of commercial bias.

All relevant financial relationships have been mitigated.

The faculty have the following relevant financial relationships with ineligible companies:

Tahseen Mozaffar, MD, FAAN—Nothing to disclose

The planners and managers have the following relevant financial relationships with ineligible companies:

Name of Planner or Manager—Reported Financial Relationship
Rhys Williams, MSN, FNP-C, RN—Nothing to disclose
Lindsay Borvansky—Nothing to disclose
Andrea Funk—Nothing to disclose
Liddy Knight—Nothing to disclose
Ashley Cann—Nothing to disclose
Kimberly Rodriguez—Nothing to disclose

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. Global Education Group (Global) does not recommend the use of any agent outside of the labeled indications.

The opinions expressed in the educational activity are those of the faculty and do not necessarily represent the views of any organization associated with this activity. Please refer to the official prescribing information for each product for discussion of approved indications, contraindications, and warnings.

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 in this activity should not be used by clinicians without evaluation of patient conditions and possible contraindications on dangers in use, review of any applicable manufacturer’s product information, and comparison with recommendations of other authorities.

 

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Available Credit

  • 1.00 AANP
  • 1.00 ACCME (All Other)
  • 1.00 ACCME (MD/DO Only)
  • 1.00 ACPE Pharmacy
  • 1.00 ANCC
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