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Farber Disease Case Study: Don’t Miss the Diagnosis

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Farber Disease – A Diagnostic Journey of a Lysosomal Storage Disorder

Farber Disease Case Study: Don’t Miss the Diagnosis

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  • Overview

    Farber disease is a lysosomal storage disorder characterized by a deficiency of the acid ceramidase enzyme. Abnormal accumulation of ceramide leads to macrophage-driven inflammation and multiple organ system pathologies, impacting bone, cartilage, the immune system, the central nervous system (CNS), lungs, and other organs. It is a progressive disease with profound morbidity and often premature death. Early recognition of core symptoms of Farber disease is necessary for accurate referral and treatment. This program provides an educational framework to shorten delays in diagnosis, and discusses new approaches that can ultimately impact a patient's long-term outcome.

  • Target Audience

    This activity has been designed to meet the educational needs of the interprofessional team, including rheumatologists, geneticists, neurologists, dermatologists, gastroenterologists, otolaryngologists, and other clinicians, involved in the management of patients with Farber disease.

  • Learning Objectives

    After participating in this educational activity, participants should be better able to:

    • Create awareness about the spectrum of ASAH1-related disorders
    • Gain an understanding of the common and uncommon signs and the hallmark triad of symptoms associated with Farber disease
    • Demonstrate the best practice approach to testing and diagnosing Farber disease
    • Provide insight into new clinical trial designs and for newly diagnosed or suspected Farber Disease patients
  • Accreditation and Credit Designation Statements

    In support of improving patient care, this activity has been planned and implemented by Global Learning Collaborative (GLC) and TotalCME, Inc. GLC is jointly accredited by the American Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE) and the American Nurses Credentialing Center (ANCC) to provide continuing education for the healthcare team.
     
    This activity was planned by and for the healthcare team, and learners will receive 1.25 Interprofessional Continuing Education (IPCE) credits for learning and change.

  • Faculty Disclosure of Commercial Relationships

    Disclosure Policy
    In accordance with the ACCME Standards for Integrity and Independence, Global Learning Collaborative (GLC) requires that individuals in a position to control the content of an educational activity disclose all relevant financial relationships with any ineligible company. GLC mitigates all conflicts of interest to ensure independence, objectivity, balance, and scientific rigor in all educational programs. 

    The following faculty have disclosed:

    Edward H. Schuchman, MD, faculty for this educational event, received honoraria and advisory fees from Aceragen; and is a patent holder for Aceragen; and received ownership interest from Aceragen.   

    Paul Harmatz, MD, faculty for this educational event, received honoraria and advisory fees from Aeglea BioTherapeutics, Alexion Pharmaceuticals, Audentes, AVROBIO, Capsida, Chiesi USA, Inc., Denali, Enzyvant, Grace Science Foundation, Homology, Inventiva Pharma, JCR, Novel Pharma, Orchard Therapeutics, Paradigm, Renoviron, Saliogen, and Sobi, Inc.; and is a contract researcher from Allievex, Amicus Therapeutics, Inc., Ascendis, BioMarin Pharmaceutical Inc., Denali, Enzyvant, Idorsia, Inventiva Pharma, JCR, Orphazyme, Prevail, QED, RegenXbio, Sangamo, Sano and Genzyme US Companies, Sobi, Inc, and Takeda California, Inc.  

    V. Reid Sutton, MD, faculty for this educational event, received honoraria and advisory fees from Elevate Bio and Chiesi; and received research funds from Ultragenyx and Arcturus; and received ownership interest from Aceragen. 

    John Mitchell, MD, MSc, faculty for this educational event, has no relevant financial relationships with ineligible companies.

  • Planners and Managers Disclosure List

    The following planners/reviewers/managers have disclosed:

    Prerna Poojary, PhD, planner for this educational event, has no relevant financial relationships with ineligible companies.

    William Mencia, MD, FACEHP, CHCP, reviewer for this educational event, has no relevant financial relationships with ineligible companies.

    TotalCME, Inc. planners and managers have no relevant commercial relationships to disclose.

    All the relevant financial relationships for these individuals have been mitigated.

  • Disclaimer

    The views and opinions expressed in this educational activity are those of the faculty and do not necessarily represent the views of GLC and TotalCME, Inc. This presentation is not intended to define an exclusive course of patient management; the participant should use his/her clinical judgment, knowledge, experience, and diagnostic skills in applying or adopting for professional use any of the information provided herein. 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 or dangers in use, review of any applicable manufacturer’s product information, and comparison with recommendations of other authorities. Links to other sites may be provided as additional sources of information. Once you elect to link to a site outside of MedEd On The Go you are subject to the terms and conditions of use, including copyright and licensing restrictions, of that site.

    Reproduction Prohibited
    Reproduction of this material is not permitted without written permission from the copyright owner.

  • Acknowledment

    This activity is supported by an independent educational grant from Aceragen.

    Jointly provided by Global Learning Collaborative (GLC) and TotalCME, Inc.

  • Fee Statement

    This activity is FREE to all participants.

  • Instructions for Completion

    During the period 12/22/2022 through 12/22/2023, registered participants wishing to receive continuing education credit for this activity must follow these steps:

    1. Read the learning objectives and faculty disclosures.
    2. Answer a pre-program question.
    3. View the program.
    4. Complete the post-test with a score of 100%. 
    5. Complete activity evaluation.
    6. Apply for credit and either bank your credits or print your certificate.


    For Pharmacists: Upon successfully completing the post-test with a score of 100% and the activity evaluation form, transcript information will be sent to the NABP CPE Monitor Service. This may require you to add or update the e-profile ID/date of birth information saved in your account.

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Schedule28 Sep 2023