Accreditation/Credit Designation

Physicians’ Education Resource®, LLC, is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.

Physicians’ Education Resource®, LLC, designates this enduring material 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.

Physicians’ Education Resource®, LLC is approved by the California Board of Registered Nursing, Provider #16669, for 1.0 Contact Hour.

Acknowledgment of Support

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

Community Practice Connections™: Cases and Conversations: Exploring the Implications of Variants of Unknown Significance (VUS) in Fabry Disease

Release Date: May 21, 2021
Expiration Date: May 21, 2022

Activity Overview

Fabry disease is a rare, X-linked lysosomal storage disease (LSD) resulting from pathogenic mutations in the α-galactosidase A gene (GLA). A wide variety of clinical manifestations and phenotypes with potentially life-threatening complications can develop, creating a considerable disease burden in this patient population.

This Community Practice Connections™ program provides an in-depth review of some of the key highlights from a symposium on Fabry disease held at the American College of Medical Genetics (ACMG) 2021 annual meeting. This unique and engaging multimedia activity is ideal for community-based clinicians, geneticists, genetic counselors, and other health care professionals. This program focuses on the practical aspects of managing patients with Fabry disease, including pathogenesis, diagnosis, genotypic and phenotypic spectrums, current and emerging therapies, and advances in patient care. This program is designed for those who did not attend the live meeting and to help reinforce learnings for those who did.

Acknowledgement of Commercial Support

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

Instructions for This Activity and Receiving Credit

  1. Complete the activity (including pre- and post-activity assessments).
  2. Answer the evaluation questions.
  3. Request credit using the drop-down menu.

You may immediately download your certificate.


Target Audience

This educational program is directed toward geneticists, genetic counselors, pediatricians, endocrinologists, primary care physicians, nurses, nurse practitioners, and physician assistants who treat patients with Fabry disease. Other health care professionals interested in the treatment of Fabry disease are also invited to participate.

Learning Objectives

Upon successful completion of this activity, you should be better prepared to:

  • Describe the known pathophysiological mechanisms involved in Fabry disease, particularly the role of both typical and atypical genetic mutations in determining disease phenotype
  • Recognize the clinical features of both classic Fabry disease and nonclassic disease variants, including disease-related organ complications and other clinical implications
  • Select appropriate screening and diagnostic assessments for early disease recognition and incorporate evidence-based guidelines for monitoring and referral into clinical decision-making
  • Apply knowledge of data from research studies evaluating currently available treatments and considering their appropriateness for individual patients based on genotype, phenotype, family history, gender, and disease severity.

Faculty, Staff, and Planners’ Disclosures

The staff of Physicians’ Education Resource®, LLC have no relevant financial relationships with ineligible entities.

Faculty

Dawn Jacob Laney, MS, CGC, CCRC
Dawn Jacob Laney, MS, CGC, CCRC
Assistant Professor/Genetic Counselor
Director, Emory Genetic Clinical Trials Center
Program Leader, Emory Lysosomal Storage Disease Center
Emory University
Atlanta, GA

Disclosures: Grant/Research Support: 4D Molecular Therapeutics, Amicus Therapeutics, Protalix BioTherapeutics, Sangamo Therapeutics, Sanofi Genzyme, Takeda/Shire; Consultant: Amicus Therapeutics, Protalix BioTherapeutics, Sanofi Genzyme, Takeda/Shire; Other: Cofounder, ThinkGenetic; serves on the Fabry Registry Board of Advisors.

Anjay Rastogi, MD, PhD
Anjay Rastogi, MD, PhD
Professor and Clinical Chief
Division of Nephrology | Department of Medicine
Director, UCLA CORE Kidney Program
Director, Nephrology Clinical Research Program
Director, Genetics in Kidney Disease
David Geffen School of Medicine at UCLA
UCLA Health
Los Angeles, CA

Disclosures: Grant/Research Support: Alnylam Pharmaceuticals, Bayer, Gilead, GlaxoSmithKline, Idorsia Pharmaceuticals, Kadmon Corporation, NIH, Novo Nordisk, Omeros, Pfizer, Protalix BioTherapeutics, Reata Pharmaceuticals, Summit Oxford; Consultant: Akebia, Ardelyx, AstraZeneca, Aurinia, Chiesi Global Inc, Fresenius Medical Care-Vifor, GlaxoSmithKline, Otsuka, Vifor Pharma (Relypsa), Sanofi S.A.; Speakers’ Bureau: Amgen, AstraZeneca, Aurinia, Baxter, Fresenius Medical Care, Janssen, Otsuka, Relypsa, Natera, Sanofi Genzyme, Spire Learning, Tricida.

Robert Hopkin, MD
Robert Hopkin, MD
Associate Professor of Clinical Pediatrics
Director of the Genetics Residency Programs at Cincinnati Children’s Hospital Medical Center
Cincinnati Children’s Hospital Medical Center Division of Human Genetics
Cincinnati, OH

Disclosures: Grant/Research Support: Alexion Pharmaceuticals, Amicus Therapeutics, Idorsia Pharmaceuticals, Protalix BioTherapeutics, Sanofi Genzyme, Takeda; Consultant: AVROBIO, Alexion Pharmaceuticals, Amicus Therapeutics, Chiesi USA, Sangamo Therapeutics, Sanofi Genzyme, Takeda; Speakers’ Bureau: Alexion Pharmaceuticals, Sanofi Genzyme; Other: Advisory Arrangement: Alexion Pharmaceuticals, Amicus Therapeutics, Sanofi Genzyme.

PER® mitigated all COI for faculty, staff, and planners prior to the start of this activity by using a multistep process.

Off-Label Disclosure and Disclaimer

This activity may or may not discuss investigational, unapproved, or off-label use of drugs. Learners are advised to consult prescribing information for any products discussed. The information provided in this accredited activity is for continuing education purposes only and is not meant to substitute for the independent clinical judgment of a healthcare professional relative to diagnostic, treatment, or management options for a specific patient’s medical condition. The opinions expressed in the content are solely those of the individual faculty members and do not reflect those of PER® or any company that provided commercial support for this activity.


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