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.

The National Gaucher Foundation, Inc.

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: 21 Jul 2015

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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.

The National Gaucher Foundation, Inc.

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: 21 Jul 2015

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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 79 free, full-text research articles on human participants. First 3 results:

Biochemical response to substrate reduction therapy versus enzyme replacement therapy in Gaucher disease type 1 patients.
 

Author(s): Bouwien E Smid, Maria J Ferraz, Marri Verhoek, Mina Mirzaian, Patrick Wisse, Herman S Overkleeft, Carla E Hollak, Johannes M Aerts

Journal:

 

We retrospectively compared biochemical responses in type 1 Gaucher disease patients to treatment with glycosphingolipid synthesis inhibitors miglustat and eliglustat and ERT.

Last Updated: 24 Mar 2016

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Patients with type 1 Gaucher disease in Spain: A cross-sectional evaluation of health status.
 

Author(s): Pilar Giraldo, Jordi Pérez-López, Ramiro Núñez, Rafael Fernández de la Puebla, Elisa Luño, Salvador Saura-Grau, Juan Carlos Bureo, Sylvia Plaza, Javier de la Serna

Journal: Blood Cells Mol. Dis.. 2016 Jan;56(1):23-30.

 

A multicentre, cross-sectional epidemiological survey was conducted to describe the health status of patients with type 1 Gaucher disease (GD1) in Spain. Patient data were collected retrospectively from clinical records. Therapeutic goals for seven clinical parameters were chosen ...

Last Updated: 25 Nov 2015

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Switching from imiglucerase to miglustat for the treatment of French patients with Gaucher disease type 1: a case series.
 

Author(s): Christine Serratrice, Laure Swiader, Jacques Serratrice

Journal:

 

Gaucher disease is caused by a deficiency of the enzyme β-glucocerebrosidase. Treatment with enzyme replacement therapy has been available for the past two decades but, although effective, enzyme replacement therapy can be delivered only by intravenous infusion every other week. ...

Last Updated: 3 Jul 2015

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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 5 free, full-text review articles on human participants. First 3 results:

Comorbidities and pharmacotherapies in patients with Gaucher disease type 1: The potential for drug-drug interactions.
 

Author(s): Jeanine Utz, Chester B Whitley, Paul L M van Giersbergen, Stefan A Kolb

Journal: Mol. Genet. Metab.. 2016 Feb;117(2):172-8.

 

Clinical care for patients with rare diseases may be complicated by comorbidities. Administration of medications to treat comorbidities may elicit potentially harmful drug-drug interactions (DDIs). Genetic background may also influence DDI occurrence. We investigated the range of ...

Last Updated: 15 Feb 2016

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Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States.
 

Author(s): Manisha Balwani, Thomas Andrew Burrow, Joel Charrow, Ozlem Goker-Alpan, Paige Kaplan, Priya S Kishnani, Pramod Mistry, Jeremy Ruskin, Neal Weinreb

Journal: Mol. Genet. Metab.. 2016 Feb;117(2):95-103.

 

In Gaucher disease, deficient activity of acid β-glucosidase results in accumulation of its substrates, glucosylceramide and glucosylsphingosine, within the lysosomes of cells primarily in the spleen, liver, bone marrow, and occasionally the lung. The multisystem disease is predominantly ...

Last Updated: 15 Feb 2016

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Eliglustat tartrate for the treatment of adults with type 1 Gaucher disease.
 

Author(s): Lunawati L Bennett, Kelsey Turcotte

Journal:

 

The purpose of this article is to review eliglustat tartrate, a substrate reduction therapy, for the treatment of Gaucher disease type 1 (GD1). GD is an rare inborn error of metabolism caused by accumulation of lipid substrates such as glucosylceramide within the monocyte-macrophage ...

Last Updated: 8 Sep 2015

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Role of Oxidative Stress and Inflammation in Type 1 Gaucher Disease (GD1)
 

Status: Recruiting

Condition Summary: Gaucher Disease Type 1

 

Last Updated: 20 Oct 2015

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The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher Disease
 

Status: Recruiting

Condition Summary: Gaucher Disease Type 1; Gaucher Disease Type 3

 

Last Updated: 18 Aug 2015

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