Optimizing care for patients with Fabry disease: Interactive case challenges

Dear Colleague,

Welcome to our symposium, “Optimizing care for patients with Fabry disease: Interactive case challenges”, organized in conjunction with the ACMG Annual Clinical Genetics Meeting 2024.

Timely and comprehensive clinical intervention is key to prevent the advance, or further progression, of Fabry disease in affected patients; however, there is often a delay in diagnosis and treatment initiation. In recent years, we have witnessed significant advancements with the approval of Fabry disease specific disease-modifying therapies (DMTs), which have helped to improve the symptom burden and slow disease progression. During this satellite symposium, our expert faculty will highlight crucial facets of comprehensive care and treatment for individuals with Fabry disease, spanning from diagnosis to the formulation of optimal treatment plans, and encompassing the integration of multidisciplinary care strategies.

This symposium offers interactive case challenges during which you will be called upon to participate in resolving the challenge, spotlighting real-world scenarios to enhance clinical insights. Patient voices, through insightful videos, will guide our discussions, providing the patient’s point of view and perspective on navigating Fabry disease.

We hope you will find this highly interactive symposium informative and that it will enrich your understanding, by fostering dialogue and providing you with strategies to enhance the care of patients with Fabry disease.

With warm regards,

Anjay Rastogi MD PhD

Director | UCLA CORE Kidney Health Program

Professor and Clinical Chief

Division of Nephrology | Department of Medicine


Tuesday, March 12, 2024; 6:15–7:45pm EDT

Delta Hotels Toronto
Kensington Ballroom
75 Lower Simcoe St, Toronto, ON, M5J 3A6


Participation is open to all ACMG Meeting registered attendees but capacity may be limited. Register here to secure your seat.


This activity is intended for geneticists, genetic counselors, and other HCPs engaged in the care of patients with or at risk for Fabry Disease.


At the conclusion of this session, participants should be able to:

  • Identify early signs of the multisystemic manifestations of FD and apply guideline-recommended criteria and testing algorithms, including screening of at-risk relatives
  • Evaluate available clinical data on FD-specific DMTs to support evidence-based treatment decisions
  • Develop and implement comprehensive (multidisciplinary, interdisciplinary, integrated) care plans to manage potential disease complications, using organ-specific biomarkers and QoL measures, for disease monitoring


A CME-accredited on-demand webcast of this satellite symposium will be available for one year on Ology Medical Education.


Contact information for questions about the activity:
[email protected], www.ologyeducation.org
[email protected], www.pimed.com

This Corporate Educational Satellite Symposium is not a part of the official ACMG Annual Meeting program. ACMG does not approve or endorse any commercial products or services discussed during the session or offered for sale by the organizer of the event.

Tuesday, March 12, 2024; 6:15–7:45 PM EDT
Room: Kensington Ballroom, Delta Hotels Toronto

6:15–6:20 PM EDT Welcome and introduction
Anjay Rastogi (Los Angeles, CA, USA), Dawn A. Laney (Atlanta, GA, USA)
6:20–6:30 PM EDT Laying the foundation for the diagnosis of Fabry Disease
Dawn A. Laney (Atlanta, GA, USA)
6:30–6:45 PM EDT Laying the foundation for the clinical management of patients with Fabry Disease
Anjay Rastogi (Los Angeles, CA, USA)
6:45–7:05 PM EDT Patient case challenge
John Lynn Jefferies (Memphis, TN, USA)
7:05–7:25 PM EDT Patient case challenge
Anjay Rastogi (Los Angeles, CA, USA)
7:25–7:40 PM EDT Panel discussion and Q&A
Moderated by Dawn A. Laney (Atlanta, GA, USA)
7:40–7:45 PM EDT Key messages and Close of meeting
Anjay Rastogi (Los Angeles, CA, USA)

Anjay Rastogi, MD, PhD (Chair)
Professor and Clinical Chief of Nephrology
UCLA David Geffen School of Medicine
Los Angeles, CA, USA

Anjay Rastogi is Professor of Medicine and Clinical Chief of Nephrology at the David Geffen School of Medicine at University College California (UCLA) in Los Angeles, CA, USA. He is also Director of the Nephro-Genetics Program at UCLA, Director of the Diet and Nutrition Kidney Disease Program at UCLA, and Medical Director of the DaVita Brentwood Dialysis Unit among many other professional roles. Professor Rastogi completed an internal medicine residency and nephrology fellowship at UCLA, where he also completed his graduate training under the mentorship of Nobel Laureate Professor, Louis Ignarro. He is board certified in nephrology and has a doctoral degree (PhD) in pharmacology.

Professor Rastogi founded, and is the director of, the UCLA CORE Kidney Health Program; this includes the Circle of CORE, a patient advocacy and support group formed by patients that includes kidney recipients and living kidney donors. He also serves as the director of many other programs, including the Genetics Program at UCLA, all of which are dedicated to providing the best comprehensive and integrated care to patients and their families.

Professor Rastogi was awarded the UCLA Exceptional MD of the Year Award in 2014 for his demonstration of the UCLA values of compassion, respect, excellence, discovery, integrity, and teamwork. He has also recently received the 2023 Younes Nazarian Medical Humanitarian Prize; the purpose of this award is to recognize UCLA Health visionary practitioners or senior level healthcare providers whose clinical care, medical research, community programs, or technological innovations are advancing humanity.


John L. Jefferies, MD, MBA, MPH, FACC, FAHA
University of Memphis School of Public Health, St Jude’s Children’s Research Hospital, and American College of Cardiology, Memphis, TN, USA

John L. Jefferies is an internationally recognized cardiologist specializing in cardiomyopathies, heart failure, genetics, heritable disease, artificial intelligence (AI) and machine learning, and rare diseases. He is a Professor in the School of Public Health at the University of Memphis, TN, USA, and a Research Member of St Jude Children’s Research Hospital in Memphis, Tennessee. He is also the current Governor of the Tennessee Chapter of the American College of Cardiology, the President of the American Heart Association Mid-South region, and the team cardiologist for the Memphis Grizzlies.

Dr Jefferies completed his combined pediatric and adult cardiology training at the Baylor College of Medicine in Houston, TX, USA, and at the Texas Children’s Hospital and the Texas Heart Institute, also in Houston; he received an MBA from the Wharton Business School of the University of Pennsylvania, Philadelphia, PA, USA, with a dual major in Management and Entrepreneurship and Innovation. He is actively involved in the advancement of innovative technologies including AI in healthcare, novel strategies for healthcare provision connectivity, precision medicine, diagnosis and management of rare diseases, and patient advocacy. His research is funded by sources including the National Institutes of Health (NIH) and multiple industry partners. He is the Lead Editor of two leading textbooks on cardiology and has authored or co-authored over 300 peer-reviewed manuscripts and book chapters.


Dawn A. Laney, MS, CGC, CCRC
Genetic Counselor and Assistant Professor
Emory University School of Medicine, Emory University
Atlanta, GA, USA

Dawn A. Laney is a genetic counselor, associate professor, clinical researcher, and program leader at the Lysosomal Storage Disease Center, and Director of the Emory Genetic Clinical Trials Center in the Department of Human Genetics, both at Emory University in Atlanta, GA, USA. She earned her Master’s degree in medical genetics from Sarah Lawrence College in 1999, followed by certification from the American Board of Genetic Counseling in 2002.

Ms Laney’s clinical and research interests focus on Fabry disease. Since joining the Emory Division of Medical Genetics in 2002, she has been involved in the follow-up of abnormal metabolic newborn screening for the whole state of Georgia, the development, and management of a genetic infusion center, and ysosomal storage disease clinical care and research. She is a cofounder of ThinkGenetic, Inc., which empowers patients with information about possible genetic causes for their medical issues and provides real-life answers to their questions about the impact of living with a genetic disease. Ms Laney enjoys writing children’s books, most of which are about living with Fabry disease.


Disclosures of conflicts of interest

Postgraduate Institute for Medicine (PIM) requires instructors, planners, managers, and other individuals who are in a position to control the content of this activity to disclose any real or apparent conflict of interest (COI) they may have as related to the content of this activity. All identified COI are thoroughly vetted and resolved according to PIM policy. PIM is committed to providing its learners with high quality activities and related materials that promote improvements or quality in healthcare and not a specific proprietary business interest of a commercial interest.



Anjay Rastogi, MD, PhD (Chair)
Speakers bureau for Amgen, AstraZeneca, Aurinia, Bayer, Baxter, Fresenius Medical Care, Sanofi Genzyme, Vifor Pharma Inc., Natera. Consultant/Advisory Board for Akebia Therapeutics, Amicus Therapeutics, Ardelyx, AstraZeneca, Aurinia, Chiesi Global Inc., Chinook Therapeutics, Fresenius Medical Care-Vifor, GlaxoSmithKline, Novartis, Otsuka, Sanofi S.A.,Travere Therapeutics, Vifor Pharma Inc. Research Support/Clinical Trials for Alnylam Pharmaceuticals, AstraZeneca, Bayer, GlaxoSmithKline, Idorsia Pharmaceuticals, Ltd, Kadmon Corporation, LLC, NIH, Novo Nordisk, Omeros Inc., Palladio Biosciences, Pfizer, Protalix Biotherapeutics Ltd, Reata Pharmaceuticals, Inc., Regulus Therapeutics, Summit Oxford Therapeutics, Sanofi S.A.


John L. Jefferies, MD, MBA, MPH, FACC, FAHA
Employee of Bristol Myers Squibb. Grant/Research Support from NIH, HeartBeam, Bristol Myers Squibb. Speakers bureau for Bristol Myers Squibb, Daxor, Nuwellis, NS Pharma. Consultant/Advisory Board for Daxor, Nuwellis, Medtronic.


Dawn A. Laney, MS, CGC, CCRC
Grant/Research Support from Amicus Therapeutics, Sanofi Genzyme. Consultant/Advisory Board for Amicus Therapeutics, Chiesi, Sanofi Genzyme, Takeda. Non-Mutual funds Stock Ownership/Stock options with ThinkGenetic, Inc.


Planners and managers
The PIM planners and managers have nothing to disclose. The Ology Medical Education planners and managers have nothing to disclose.

Joint accreditation statement
In support of improving patient care, this activity has been planned and implemented by the Postgraduate Institute for Medicine and Ology Medical Education. Postgraduate Institute for Medicine is jointly accredited by the Accreditation 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.

Physician continuing medical education
The Postgraduate Institute for Medicine designates this live activity for a maximum of up to 1.5 AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

A statement of credit will be issued only upon receipt of a completed evaluation form.


Successful completion of this CME activity, which includes participation in the evaluation component, enables the participant to earn up to 1.5 MOC points in the American Board of Internal Medicine’s (ABIM) Maintenance of Certification (MOC) program. It is the CME activity provider’s responsibility to submit participant completion information to ACCME for the purpose of granting ABIM MOC credit.


Royal College of Physicians and Surgeons of Canada
Through an agreement between the Accreditation Council for Medical Education and the Royal College of Physicians and Surgeons of Canada, medical practitioners participating in the Royal College MOC Program may record completion of accredited activities registered under the ACCME’s “CME in support of MOC” program in section 3 of the Royal College’s MOC Program.


Request for Credit
In order to obtain your CME/CE certificate, please follow the steps below at the conclusion of the activity:

  1. Go to www.cmeuniversity.com
  2. Login or Create a New Account (will take less than 1 minute)
    1. If you receive a message when creating a new account that “the email you entered is already in use”, please click the Forgot my Username or Password link to have your Username and Password sent to you via email
    2. After logging in, you may be asked to verify/update your information; after doing so, click Save at the bottom of the page
  3. Type in 18295 at the top of the page, “Find Post-Test/Evaluation by Course”, and click enter
  4. Click on the activity title when it appears
  5. Choose the type of credit you desire
  6. Complete the online assessment
  7. Receive an immediate CME/CE Certificate to download and/or print for your files

If you have questions regarding the certification of this activity, please contact PIM via email at [email protected].

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

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 and/or dangers in use, review of any applicable manufacturer’s product information, and comparison with recommendations of other authorities. The course materials are for educational purposes only and should not be reproduced or distributed in any way. If you wish to reproduce, store in a retrieval system, transmit in any form or by any means, electronic, mechanical, photocopying, recording, or otherwise, any part of the material presented, you will need to obtain all the necessary permissions by writing to the publisher, the original author, or any other current copyright owner.

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 planners of this activity do 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 the planners.  Please refer to the official prescribing information for each product for discussion of approved indications, contraindications, and warnings.