Additional Materials

Gaucher Disease 101

An overview of Gaucher disease, including challenges in lysosomal storage disease (LSD) management, inheritance and epidemiology of Gaucher disease, information on presentation and diagnosis, and LSD resources.

Splenomegaly in Children: When It Is Not a Malignancy

In this symposium from ASPHO 2021, Dr. Joel Weinthal (Medical City Hospital in Dallas, Dallas, TX ) reviewed patient cases where splenomegaly and other unexplained findings typical of a malignancy, are factors in a differential diagnosis of Gaucher disease or Acid Sphingomyelinase Deficiency (ASMD). The following topics related to Gaucher disease and ASMD were discussed:

Clinical Rationale of Parallel Testing

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

Lyso-GL-1: Information for Healthcare Providers

In this short video, Jie Feng, MS, LcGC, Sanofi US Medical Science Liaison, provides an overview of lyso-GL-1, including its molecular structure and role in the Gaucher disease pathway, what makes a good disease biomarker and how established Gaucher disease biomarkers fit those parameters, and evidence that demonstrates utility of lyso-GL-1 as a Gaucher disease biomarker.

Gaucher Disease and ASMD: WORLD 2020 Symposium

In this symposium from the WORLD 2020 conference in February 2020, Dr. Pramod K. Mistry (Yale School of Medicine, New Haven, CT) and Shiny Nair, PhD (Yale School of Medicine, New Haven, CT) reviewed Gaucher disease and ASMD mechanisms of disease and clinical similarities, and combined expertise from the two disease areas to draw commonalities, parallels, and dichotomies. The following topics related to Gaucher disease and ASMD were discussed:

New Insights on the Pathophysiology of Gaucher Disease

This narrated video presentation provides an overview of new findings of Gaucher disease pathophysiology, describes the biological role of glucosylceramide and acid ceramidase as modulators of cell signalling in Gaucher disease and other sphingolipidoses, and reviews the metabolic nature and immunological aspects of lyso-GL-1, a molecule with important biomarker potential in Gaucher disease.

New to Molecular Testing?

This 4-minute video illustrates the path a healthcare provider takes when ordering diagnostic testing for a lysosomal storage disease for the first time.

Schedule of Assessments

A summary of the recommended minimum evaluation schedule for Gaucher disease.

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 both Gaucher disease enzyme assay (β-glucosidase or glucocerbrosidase), ASM enzyme assay (acid sphingomyelinase), and/or GBA and SMPD1 sequencing, respectively.

The document referenced above does not contain an exhaustive list of labs, or an endorsement of any one lab. Other testing options can be found at (free login required) or 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.


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:

National Organization for Rare Disorders:

Concert Genetics (free login required):

Genetic Home Reference:

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, the clinical data has been collected on over 6,000 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 to 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 at

Next in Gaucher Disease