Learn About Gaucher Disease Type 2

View Main Condition: Gaucher Disease

What is the definition of Gaucher Disease Type 2?
Gaucher disease type 2 is an inherited metabolic disorder in which harmful quantities of a fatty substance called glucocerebroside accumulate in the spleen, liver, lungs, bone marrow, and brain. Symptoms usually develop by 3 months of age and include brain damage, seizures, abnormal eye movements, poor ability to suck and swallow, and enlargement of the liver and spleen. Gaucher disease type 2 is caused by genetic changes in the GBA gene. It is inherited in an autosomal recessive pattern.
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What are the alternative names for Gaucher Disease Type 2?
  • Gaucher disease type 2
  • GD 2
  • Gaucher disease, acute neuronopathic type
  • Gaucher disease, infantile cerebral
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What are the latest Gaucher Disease Type 2 Clinical Trials?
A Post Marketing Surveillance (PMS) Study for VPRIV (Velaglucerase Alfa) in India

Summary: The purpose of this post-marketing survey study is to determine the safety and evaluate effectiveness in participants receiving VPRIV when used in the post-marketing setting and to collect and record genetic mutation data from participants with Gaucher disease.

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Omics Gaucher Study: Multiomic Approach To Describe The Gaucher Disease Treatment Dynamics In Comparison To Untreated Healthy Volunteers

Summary: The study aims to investigate the transcriptomic and metabolomic changes in blood, plasma and isolated monocytes from Gaucher patients and healthy controls.

Who are the sources who wrote this article ?

Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

What are the Latest Advances for Gaucher Disease Type 2?
Safety and effectiveness of taliglucerase alfa in patients with Gaucher disease: an interim analysis of real-world data from a multinational drug registry (TALIAS).
Long-term safety and effectiveness of velaglucerase alfa in Gaucher disease: 6-year interim analysis of a post-marketing surveillance in Japan.
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Upgrading the evidence for the use of ambroxol in Gaucher disease and GBA related Parkinson: Investigator initiated registry based on real life data.