Learn About Gaucher Disease Type 1

View Main Condition: Gaucher Disease

What is the definition of Gaucher Disease Type 1?
Gaucher disease type 1 (GD1) is the most common form of Gaucher disease. Like other types of Gaucher disease, GD1 is caused when not enough glucocerebrosidase (GBA) is made. GBA is an important enzyme that breaks down a fatty chemical called glucocerebroside. Because the body cannot break down this chemical, fat-filled Gaucher cells build up in areas like the spleen, liver and bone marrow. Unlike type 2 and 3, GD1 does not usually involve the brain and spinal cord (central nervous system). Symptoms of GD1 include enlarged spleen and liver, low blood cell counts, bleeding problems and bone disease. The symptoms can range from mild to severe and may appear anytime from childhood to adulthood. Gaucher disease is caused by changes in the GBA gene and is inherited in an autosomal recessive manner. Diagnosis is suspected by clinical symptoms and confirmed by measuring GBA enzyme activity or genetic testing.
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What are the alternative names for Gaucher Disease Type 1?
  • Gaucher disease type 1
  • Acid beta-glucosidase deficiency
  • GD 1
  • Gaucher disease, noncerebral juvenile
  • Glucocerebrosidase deficiency
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What are the latest Gaucher Disease Type 1 Clinical Trials?
A Multicenter, Open-label Study to Evaluate the Safety, Efficacy, and Pharmacokinetics of Velaglucerase Alfa in Chinese Subjects With Type 1 Gaucher Disease

Summary: The main purpose of this study is to observe the side effects of VPRIV in participants with type 1 Gaucher disease who are either treatment-naïve (newly diagnosed) or who are currently being treated with enzyme replacement therapy (ERT). Participants will receive VPRIV intravenously during the treatment period (up to 51 weeks), followed by the end-of-treatment (EOT) visit after 2 weeks.

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Studies of Genetic Heterogeneity in Patients With Lysosomal Storage Disorders

Summary: The purpose of this study is to identify genetic, biochemical, and clinical factors that are associated with disease severity in people with Gaucher disease and other lysosomal storage disorders. There is a vast spectrum of clinical manifestations in people with Gaucher disease as well as other lysosomal storage disorders. This study will evaluate patients with lysosomal disorders on an outpatient...

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

What are the Latest Advances for Gaucher Disease Type 1?
Thirty-year clinical outcomes after haematopoietic stem cell transplantation in neuronopathic Gaucher disease.
Effectiveness and safety of the treatment of lysosomal deposit diseases: Analysis of 22 patients.
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Safety and effectiveness of taliglucerase alfa in patients with Gaucher disease: an interim analysis of real-world data from a multinational drug registry (TALIAS).