Sanofi Rare Diseases Medical
ASMD

    Acid Sphingomyelinase Deficiency Disease Overview

    A slide deck providing a summary overview of ASMD epidemiology, genetics, pathophysiology, and disease manifestations.

    Lung and Liver Manifestations of ASMD

    An infographic summarizing the lung and liver manifestations of ASMD.

    New to Molecular Testing?

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

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    ASMD and Gaucher Disease Diagnosis

    For more information on diagnosing ASMD, including a list of labs offering SMPD1 gene sequencing or acid sphingomyelinase enzyme activity assay, review this short 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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    Acid Sphingomyelinase Deficiency Biomarker: Lyso-Sphingomyelin

    This brochure provides information on testing for lyso-sphingomyelin, a biomarker for acid sphingomyelinase deficiency that is detectable in the blood of patients with ASMD.

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    Clinical Rationale of Parallel Testing

    This short video reviews the similarities in the clinical presentation between ASMD and Gaucher disease and when to consider testing for each disease.

    Welcome to the Sanofi Rare Diseases University

    A flyer for the Sanofi-sponsored rare diseases educational program providing a summary of the ASMD curriculum and registration details for the program. 

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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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    Solve the Case: When Splenomegaly in Children Is Not Malignancy

    In this symposium from ASPHO 2023, Dr. Can Ficicioglu (University of Pennsylvania Perelman School of Medicine, Philadelphia, PA) and Dr. Caroline Hastings (UCSF Benioff Children’s Hospital Oakland, University of California, San Francisco School of Medicine, San Francisco, CA) reviewed patient cases where splenomegaly and other unexplained findings typical of a malignancy are factors in a differential diagnosis of ASMD and Gaucher disease. The following topics related to ASMD and Gaucher disease were discussed:

    Case 1: Gaucher Disease

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    Case 2: ASMD

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    Clinical Rationale for Parallel Testing of Gaucher Disease and ASMD

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    Pulmonology and Medical Genetics: A Multidisciplinary Approach to Diagnosis and Monitoring in Rare Diseases

    In this symposium from ACMG 2023, Dr. Nicole Ng and Dr. Manisha Balwani (Icahn School of Medicine at Mount Sinai, New York, NY) reviewed clinical approaches to the diagnosis and monitoring of interstitial lung diseases and the application of these approaches within the context of an ASMD patient case. The following topics were discussed:

    Pulmonary Assessments for Interstitial Lung Disease

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    ASMD Case Presentation

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    ASMD Overview and Diagnosis

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    ASMD Multidisciplinary Monitoring

    This listing is provided as a resource only and does not constitute an endorsement by Sanofi of any particular organization or its programming. Additional resources on this topic may be available and should be investigated. Sanofi does not review or control the content of non-Sanofi websites.

    Niemann-Pick Disease Foundation

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    National Organization for Rare Disorders

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    Gene Reviews

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    Genetic Testing Registry

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    Genetic Home Reference

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    Sanofi Medical Information

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