Gaucher Disease Type 1

Common Name(s)

Gaucher Disease Type 1

Gaucher disease type 1, also called non-neuronopathic Gaucher disease because the brain and spinal cord (the central nervous system) are usually not affected, is the most common form of Gaucher disease. The features of this condition range from mild to severe and may appear anytime from childhood to adulthood.  The condition effects various body parts, primarily the liver, spleen, lungs, bone, and blood cells. Gaucher disease is caused by mutations in the GBA gene and is inherited in an autosomal recessive pattern.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Gaucher Disease Type 1" for support, advocacy or research.

National Gaucher Foundation

In addition to raising millions of dollars to support and promote research towards the cause, treatments and a cure for Gaucher disease, the NGF's mission is to provide assistance and resources to families and individuals who are affected by the disease. To meet the ever-increasing needs of the Gaucher community, the NGF provides a wide range of financial, educational, legislative, mentor and outreach programs for families and individuals with Gaucher disease.

Last Updated: 30 Sep 2014

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Gaucher Disease Type 1" for support, advocacy or research.

National Gaucher Foundation

In addition to raising millions of dollars to support and promote research towards the cause, treatments and a cure for Gaucher disease, the NGF's mission is to provide assistance and resources to families and individuals who are affected by the disease. To meet the ever-increasing needs of the Gaucher community, the NGF provides a wide range of financial, educational, legislative, mentor and outreach programs for families and individuals with Gaucher disease.

http://www.gaucherdisease.org

Last Updated: 30 Sep 2014

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Gaucher Disease Type 1" returned 52 free, full-text research articles on human participants. First 3 results:

Cost-effectiveness of enzyme replacement therapy for type 1 Gaucher disease.
 

Author(s): Laura van Dussen, Marieke Biegstraaten, Carla E M Hollak, Marcel G W Dijkgraaf

Journal:

 

To evaluate the cost-effectiveness of enzyme replacement therapy (ERT) compared to standard medical care without ERT in the Dutch cohort of patients with type 1 Gaucher disease (GD I).

Last Updated: 24 Apr 2014

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Patients with type 1 Gaucher disease in South Florida, USA: demographics, genotypes, disease severity and treatment outcomes.
 

Author(s): Marissa Orenstein, Deborah Barbouth, Olaf A Bodamer, Neal J Weinreb

Journal:

 

Gaucher disease, an autosomal recessive condition due to deficiency of lysosomal glucocerebrosidase, is a multisystemic disease, with variable age of onset, severity and progression. It is classified into subtypes delineated by the absence (type 1) or presence (type 2 and 3) of primary ...

Last Updated: 11 Apr 2014

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Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease.
 

Author(s): Pramod K Mistry, Jun Liu, Li Sun, Wei-Lien Chuang, Tony Yuen, Ruhua Yang, Ping Lu, Kate Zhang, Jianhua Li, Joan Keutzer, Agnes Stachnik, Albert Mennone, James L Boyer, Dhanpat Jain, Roscoe O Brady, Maria I New, Mone Zaidi

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2014 Apr;111(13):4934-9.

 

The inherited deficiency of the lysosomal glucocerebrosidase (GBA) due to mutations in the GBA gene results in Gaucher disease (GD). A vast majority of patients present with nonneuronopathic, type 1 GD (GD1). GBA deficiency causes the accumulation of two key sphingolipids, glucosylceramide ...

Last Updated: 7 Apr 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Gaucher Disease Type 1" returned 1 free, full-text review articles on human participants. First 3 results:

Substrate reduction therapy: clinical evaluation in type 1 Gaucher disease.
 

Author(s): Chris Moyses

Journal: Philos. Trans. R. Soc. Lond., B, Biol. Sci.. 2003 May;358(1433):955-60.

 

Glycosphingolipid (GSL) lysosomal storage disorders are inherited enzyme deficiencies that result in pathological lysosomal accumulation of glycolipids, with widespread clinical consequences. Type 1 Gaucher disease is the commonest of these; the deficient enzyme in this condition ...

Last Updated: 13 Jun 2003

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 18 Feb 2014

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International Collaborative Gaucher Group (ICGG) Gaucher Registry
 

Status: Recruiting

Condition Summary: Gaucher Disease; Cerebroside Lipidosis Syndrome; Glucocerebrosidase Deficiency Disease; Glucosylceramide Beta-Glucosidase Deficiency Disease

 

Last Updated: 26 Aug 2014

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The Safety and Efficacy Study of ISU302 in Patient With Type I Gaucher Disease
 

Status: Not yet recruiting

Condition Summary: Gaucher Disease

 

Last Updated: 13 Jul 2010

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