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

Impact of imiglucerase supply constraint on the therapeutic management and course of disease in French patients with Gaucher disease type 1.
 

Author(s): Jérôme Stirnemann, Christian Rose, Christine Serratrice, Florence Dalbies, Olivier Lidove, Agathe Masseau, Yves-Marie Pers, Camille Baron, Nadia Belmatoug

Journal:

 

In 2009, a worldwide supply constraint of imiglucerase led to treatment modifications or interruptions for patients with Gaucher disease (GD) type 1. In France, joint treatment recommendations were issued to protect the most vulnerable patients. This observational study evaluated ...

Last Updated: 18 May 2015

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Atypical cytomorphology of Gaucher cells is frequently seen in bone marrow smears from untreated patients with Gaucher disease type 1.
 

Author(s): Alicja Markuszewska-Kuczynska, Monika Klimkowska, Sofie Regenthal, Agnes Bulanda, Cecilia Kämpe Björkvall, Maciej Machaczka

Journal: Folia Histochem. Cytobiol.. 2015 ;53(1):62-9.

 

Gaucher cells (GCs), the lipid-laden storage macrophages, are the pathologic hallmark of Gaucher disease (GD). They are typically 20-100 μm in diameter with eccentrically placed nuclei and cytoplasm with characteristic crinkles and striations. A few previous observations have indicated ...

Last Updated: 23 Apr 2015

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Eliglustat, an investigational oral therapy for Gaucher disease type 1: Phase 2 trial results after 4 years of treatment.
 

Author(s): Elena Lukina, Nora Watman, Marta Dragosky, Gregory M Pastores, Elsa Avila Arreguin, Hanna Rosenbaum, Ari Zimran, Jennifer Angell, Leorah Ross, Ana Cristina Puga, Judith M Peterschmitt

Journal: Blood Cells Mol. Dis.. 2014 Dec;53(4):274-6.

 

Eliglustat is an investigational, oral substrate reduction therapy for Gaucher disease type 1 (GD1). Nineteen treatment-naïve patients have now completed 4years of an open-label study (NCT00358150). Mean hemoglobin level and platelet count increased by 2.3±1.5g/dL (baseline: 11.3±1.5g/dL) ...

Last Updated: 14 Oct 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 2 free, full-text review articles on human participants. First 3 results:

Guidance on the use of miglustat for treating patients with type 1 Gaucher disease.
 

Author(s): Neal J Weinreb, John A Barranger, Joel Charrow, Gregory A Grabowski, Henry J Mankin, Pramod Mistry

Journal: Am. J. Hematol.. 2005 Nov;80(3):223-9.

 

Type 1 Gaucher disease (GD) is a progressive lysosomal storage disorder due to an autosomal recessive deficiency of glucocerebrosidase. Clinical manifestations include anemia, thrombocytopenia, hepatosplenomegaly, and bone and pulmonary disease. Intravenous enzyme replacement (ERT) ...

Last Updated: 31 Oct 2005

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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

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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LYSO-PROVE - Determine the Prognostic Value of Lyso-Gb1 for Monitoring the Progress of Gaucher Disease
 

Status: Recruiting

Condition Summary: Lysosomal Storage Diseases; Gaucher Disease; Sphingolipidoses

 

Last Updated: 6 Oct 2015

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