Sanofi Rare Diseases Medical
Gaucher Disease
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
This brochure provides more information on testing for Gaucher disease and ASMD, historically known as Niemann-Pick A and B, including incidence, patient classification, evaluations for diagnosis, and a selection of laboratories offering Gaucher disease enzyme assay (β-glucosidase or glucocerebrosidase), ASM enzyme assay (acid sphingomyelinase), and/or GBA and SMPD1 sequencing, respectively.
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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Gaucher Disease Biomarker: Lyso-GL-1
This brochure provides information on testing for glucosylsphingosine (Lyso-GL-1, Lyso-GB-1), a biomarker for glucocerebrosidase enzyme deficiency that is detectable in the blood of patients with Gaucher disease.
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Gaucher Schedule of Assessments
This is the minimum recommendations for monitoring patients with non-neuronopathic (Type 1) Gaucher Disease as determined by the International Collaborative Gaucher Group (ICGG) Board of Advisors.
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GD3 Brochure
This brochure provides education on Gaucher Disease Type 3 (GD3): a neuronopathic form of Gaucher Disease.
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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eDiagnosis: Innovations to Shorten the Rare Disease Diagnostic Journey
In this medical symposium “eDiagnosis: Innovations to Shorten the Rare Disease Diagnostic Journey” from the WORLD 2023 conference in February 2023, Jennifer Ibrahim, MD (Sanofi), Christopher Rudolf (CEO, Volv Global), Lisa Sniderman King (Sanofi), and Nicholas Wong (Sanofi) discussed the following topics:
Introduction
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Project Searchlight Using Predictive Analytics to Reduce Gaucher Diagnostic Delay
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.
National Gaucher Foundation
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Gaucher Community Alliance
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National Organization for Rare Disorders
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Genetic Testing Registry
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Gene Reviews
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Genetic Home Reference
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Sanofi Medical Information
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Patient Registry
The Gaucher Registry (sponsored by Sanofi) is the world's largest cooperative observational study on Gaucher disease. The International Collaborative Gaucher Group (ICGG) established the registry in 1991 as a longitudinal database tracking outcomes of routine clinical practice. Since its approval, clinical data has been collected on over 6000 patients with Gaucher disease. All patients with a confirmed diagnosis of Gaucher disease are eligible for inclusion. By enrolling patients in the registry, participating physicians have the ability to receive patient-specific reports to monitor disease status and access information on current treatment guidelines and practice patterns.
Since 1991, enrollment in the Gaucher Registry has grown steadily with increased numbers of physicians submitting data on more patients from a larger number of countries around the world. The participation of so many physicians, healthcare advocates, and patients has enabled the Gaucher Registry to help change the perspective and management of Gaucher disease.
Data from the Gaucher Registry provides insight into Gaucher disease, thus supporting the publication of many scientific articles. Each of these publications has helped to increase the understanding of Gaucher disease in areas including natural history, diagnosis, treatment, and management.
For more information on the Gaucher Registry, visit our website.