Sanofi Rare Diseases Medical
Fabry Disease

    Fabry Disease Overview

    An overview of Fabry disease, including pathophysiology, disease presentation and progression, challenges in diagnosis, and testing and disease registry resources for providers.

    Fabry Disease: Recognizing a Variable Condition

    A review of the clinical features and underlying pathology of Fabry disease, with a focus on its heterogeneous clinical presentations and progressive disease course. Information is provided on the nephropathy, cardiovascular, CNS/PNS, skin, ocular, auditory, gastrointestinal, and pulmonary manifestations of Fabry disease.

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    Rare Diseases University

    This comprehensive educational initiative is a physician need–oriented, interactive, and virtual platform designed for healthcare professionals around the world who are committed to advancing their knowledge and leadership in rare lysosomal storage diseases.

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    Fabry Disease: Keeping the Focus on Patients

    In this Rare Diseases University webinar “Fabry Disease: Keeping the Focus on Patients,” Nadene Henderson, MS, LCGC (University of Pittsburgh Medical Center, Children’s Hospital of Pittsburgh, PA, USA) discussed the following topics:

    Fabry Disease: 101

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    The Role of the Genetic Counselor: Communicating With Patients and Caregivers

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    Living With Fabry Disease

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    Multidisciplinary Management of Patients With Fabry Disease

    HCM-Fabry Cardiac Disease Symposium

    In this symposium "Highlighting Hypertrophic Cardiomyopathy and Fabry Cardiac Disease," recorded on November 20, 2020, Dr. Gavin Y. Oudit (University of Alberta, Edmonton, AB, Canada) discussed the following topics:

    Cardiac Involvement in Fabry Disease

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    Review of Screening Results for Fabry Disease in Relation to Hypertrophic Cardiomyopathy

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    Renal Involvement in Fabry Disease

    In this program, Professor Alberto Ortiz of the Health Research Institute of the Jiménez Diaz Foundation in Madrid, Spain discusses the chronic kidney disease found patients with Fabry Disease. He will review key components of recommended monitoring and management for kidney progression in patients with Fabry disease.

    Introduction – Chronic Kidney Disease

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    Fabry Disease

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    Assessing Kidney Disease in Patients With Fabry Disease

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    ‘Nephrology Hacks’ & Summary

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    Empowering Patients With Fabry Disease

    PubVisual: Risk Stratification in FD Using LysoGL3

    This PubVisual is a 4 minute graphic summary of van der Veen’s 2023 publication: “Early Risk Stratification for Natural Disease Course in Fabry Patients Using Plasma Lyso-GL-3 Levels”.  It provides data on stability of lyso-GL-3 levels across the lifespan in its association with clinical manifestations of Fabry disease (FD) in over 200 patients with FD.

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    9’59” Science Talk for Fabry Disease – Video Podcast 3 Challenges Experienced in Monitoring Pediatric Patients with Fabry Disease

    In the third episode of our US Medical Video Podcast Series, Jerry Walter, Founder and Executive Director of the National Fabry Disease Foundation, and Ms. Dawn Laney, Associate Professor and Director of the Emory Genetic Clinical Trial Center, will discuss the challenges experienced in monitoring pediatric patients with Fabry disease. Mr. Walter will share insights from his experience and explorations as a Patient Advocacy Group Leader.

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    9’59” Science Talk for Fabry Disease – Video Podcast 2 Challenges in Making the Dx of Fabry Disease

    In the second episode of our US Medical Video Pod-Cast Series, Jack Johnson, Executive Director of the Fabry Support and Information Group, and Dr. Daniele Massera, Associate Director of the Hypertrophic Cardiomyopathy (HCM) Program and NYU discuss the challenges families experience during family screening for Fabry disease. Dr. Massera addresses the value of genetic testing in patients with HCM and encourages cardiologists to value pedigree analysis as a high-yield intervention.

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    9’59” Science Talk for Fabry Disease – Video Podcast 1: Fatigue in Females with Fabry Disease

    In this first episode of our new US Medical Video Pod-Cast Series, Julia Alton, Executive Director of the Canadian Fabry Association and Dr. Robert Hopkin, Clinical Geneticist from Cincinnati Children’s Hospital, discuss the burden of Fabry-related fatigue and the impact it has on the lives of females with Fabry disease. Julia and Dr. Hopkin will explore potential pathologies of Fabry-related fatigue in an effort to better understand an aspect of Fabry disease which has such significant impact on the daily quality of life for many women.

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    Diagnosing Fabry Disease

    For more information on testing for Fabry disease, including incidence, patient classification, evaluations for diagnosis, and a selection of laboratories offering both α-GAL A enzyme assay and GLA sequencing, click to open our full testing brochure.

    This is not an exhaustive list of labs, or an endorsement of any one lab. Other testing options can be found at https://www.concertgenetics.com (free login required) or https://www.ncbi.nlm.nih.gov/gtr. Sanofi does not review or control the content of non-Sanofi websites. These listings do not constitute an endorsement by Sanofi of information provided by any other organizations. Tests may not be available in all states. Please contact the laboratory to confirm test availability, sample shipping information, and all other logistics.
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    Kidney Panel Testing

    This brochure provides information on chronic kidney disease (CKD) as a condition characterized by gradual loss of kidney function over time. Patients with Fabry disease can present with isolated CKD or with CKD in conjunction with additional signs and symptoms such as bradycardia, left ventricular hypertrophy, cardiac arrhythmias, heart failure, strokes, neuropathic and gastrointestinal pain, hearing loss, and angiokeratomas.

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    Cardiac Gene Panels

    This brochure provides information on hypertrophic cardiomyopathy which is a genetic disorder of cardiac myocytes. Patients with Fabry disease can present with isolated HCM or HCM in conjunction with additional signs and symptoms such as bradycardia, cardiac arrhythmias, heart failure, strokes, kidney dysfunction, neuropathic and gastrointestinal pain, hearing loss, and angiokeratomas.

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    Fabry Disease Biomarker Testing: Lyso-GL3

    For information about the Fabry disease biomarker lyso-GL3 (lyso-Gb3), and testing options, please click to see our brochure.

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    Clinical Utility of Lyso-GL3

    In this webinar “Lyso-GL3: Clinical Utility in Fabry Disease,” Dr. Ozlem Goker-Alpan (Lysosomal & Rare Disorders Treatment Center, Fairfax, VA) discussed the following topics:

    Pathophysiology of Fabry Disease

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    Pathophysiology of GL-3 and Lyso-GL3

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    Lyso-GL3 as a Biomarker in Fabry Disease

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    Role of Lyso-GL3 in Pathology in Fabry Disease: In Vitro Models

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    Does Lyso-GL3 Have a Role in the Diagnostic Algorithm of Fabry Disease?

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    Lyso-GL3 and Fabry Disease Progression and Clinical Outcomes

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    Concluding Remarks

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    New to Molecular Testing?

    This short video provides general education on molecular testing for healthcare providers who are unfamiliar with the process.

    Pacific Stroke Congress

    Dr. Robert Hopkin speaks to the vascular complications of Fabry disease in this address to the 2024 Pacific Stroke Conference, “Fabry is a Vascular Disease”.  Dr. Hopkin highlights the risks of stroke in males with females with Fabry disease regardless of phenotype and reviews screening recommendations for patients presenting with early cryptogenic stroke.

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    Fabry Disease Is a Pediatric Disease

    In this symposium “Fabry is a Pediatric Disease,” from the WORLD 2023 conference in February 2023, Dr. Robert J. Hopkin (Cincinnati Children's Hospital Medical Center, Cincinnati, OH) discussed the following topics:

    Introduction & Objectives

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    Why Do We Need to Talk About This?

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    Introduction: Fabry Disease Progression From Infancy/Childhood

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    Early Renal Histological Changes in Pediatric Patients With Fabry Disease

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    Early Cardiac Structural and Conductive Involvement in Pediatric Patients With Fabry Disease

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    Cerebrovascular Involvement in Pediatric Patients With Fabry Disease

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    Ocular and Hearing Changes in Pediatric Patients With Fabry Disease

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    Impaired Quality of Life in Pediatric Patients With Fabry Disease

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    Biomarkers in Pediatric Fabry Disease

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    Multidisciplinary Management of Pediatric Patients With Fabry Disease

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    Neurological Monitoring

    In this excerpt from the Monitoring Matters webinar series “Neurological Monitoring,” Dr. Max Hilz (Icahn School of Medicine at Mount Sinai, New York, NY, USA) focuses on neurological monitoring of patients with Fabry disease.

    Sanofi does not review or control the content of non-Sanofi websites. These listings do not constitute an endorsement by Sanofi of information provided by any other organizations.

    Concert Genetics

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    Genetic Home Reference

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    Fabry Support and Information Group

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    National Fabry Disease Foundation

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    National Organization for Rare Disorders

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    Sanofi Medical Information

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    Patient Registry

    The Fabry Registry, a program sponsored and administered by Sanofi, was created in 2001 to gather information to improve the understanding and evaluate the treatment of Fabry disease. It is the largest patient registry dedicated to Fabry disease.

    Because Fabry disease is rare, it can be difficult to collect information about it and its impacts on different people. The Fabry Registry is a global, observational database for gathering this critical information. All people who have Fabry disease are eligible to participate, regardless of whether they are on treatment.

    For more information on The Fabry Registry, visit our website.

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