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: 2 May 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: 2 May 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 49 free, full-text research articles on human participants. First 3 results:

A prospective study of bone marrow hematopoietic and mesenchymal stem cells in type 1 Gaucher disease patients.
 

Author(s): Séverine Lecourt, Enguerran Mouly, Delphine Freida, Audrey Cras, Raphaël Ceccaldi, Djazia Heraoui, Christine Chomienne, Jean-Pierre Marolleau, Bertrand Arnulf, Raphael Porcher, Catherine Caillaud, Valérie Vanneaux, Nadia Belmatoug, Jérôme Larghero

Journal:

 

Gaucher disease (GD) is an autosomal recessive disorder characterized by lysosomal glucocerebrosidase (GBA) deficiency leading to hematological and skeletal manifestations. Mechanisms underlying these symptoms have not yet been elucidated. In vivo, bone marrow (BM) mesenchymal stem ...

Last Updated: 12 Aug 2013

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Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase.
 

Author(s): Ari Zimran, Gregory M Pastores, Anna Tylki-Szymanska, Derralynn A Hughes, Deborah Elstein, Rebecca Mardach, Christine Eng, Laurie Smith, Margaret Heisel-Kurth, Joel Charrow, Paul Harmatz, Paul Fernhoff, William Rhead, Nicola Longo, Pilar Giraldo, Juan A Ruiz, David Zahrieh, Eric Crombez, Gregory A Grabowski

Journal: Am. J. Hematol.. 2013 Mar;88(3):172-8.

 

Velaglucerase alfa is a glucocerebrosidase produced by gene activation technology in a human fibroblast cell line (HT-1080), and it is indicated as an enzyme replacement therapy (ERT) for the treatment of Gaucher disease type 1 (GD1). This multicenter, open-label, 12-month study examined ...

Last Updated: 26 Feb 2013

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Evaluation of miglustat as maintenance therapy after enzyme therapy in adults with stable type 1 Gaucher disease: a prospective, open-label non-inferiority study.
 

Author(s): Timothy M Cox, Dominick Amato, Carla Em Hollak, Cecile Luzy, Mariabeth Silkey, Ruben Giorgino, Robert D Steiner,

Journal:

 

Previous studies have provided equivocal data on the use of miglustat as maintenance therapy in Gaucher disease type 1. We report findings from a clinical trial evaluating the effects of miglustat treatment in patients with stable type 1 Gaucher disease after enzyme therapy.

Last Updated: 24 Jan 2013

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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: 13 Aug 2013

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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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