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: This 44-minute recorded symposium from ASPHO 2021 reviews 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). click here
Clinical Rationale of Parallel Testing: This short video reviews the similarities in the clinical presentation between Gaucher disease and Acid Sphingomyelinase Deficiency (ASMD) and when to consider testing for both diseases. click here
Lyso-GL-1: Information for Healthcare Providers: In this short video, Jie Feng, MS, LcGC, Sanofi Genzyme 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. click here
Gaucher Disease and ASMD: WORLD 2020 Symposium In this 1-hour recorded symposium from the WORLD 2020 conference in February 2020, three expert speakers review Gaucher disease and ASMD mechanisms of disease and clinical similarities, and combine expertise from the two disease areas to draw commonalities, parallels, and dichotomies. click here
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 GCS 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, and offers tips along the way. click here
Schedule of Assessments: A summary of the recommended minimum evaluation schedule for Gaucher Disease
Gaucher Disease Diagnosis: For more information on testing for Gaucher disease and acid sphingomyelinase deficiency (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, click to open our full testing brochure.
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 www.concertgenetics.com (free login required) or www.ncbi.nlm.nih.gov/gtr. Sanofi Genzyme does not review or control the content of non-Sanofi Genzyme websites. These listings do not constitute an endorsement by Sanofi Genzyme 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 Genzyme does not review or control the content of non-Sanofi Genzyme websites. These listings do not constitute an endorsement by Sanofi Genzyme of information provided by any other organizations.
National Gaucher Foundation: https://www.gaucherdisease.org
National Organization for Rare Disorders: https://rarediseases.org/rare-diseases/gaucher-disease/
Concert Genetics (free login required): www.concertgenetics.com
Genetic Home Reference: https://ghr.nlm.nih.gov/condition/gaucher-disease
The Gaucher Registry (sponsored by Sanofi Genzyme) 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 https://www.registrynxt.com/.
Last Updated: Apr 14, 2021