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

A novel mutation causing type 1 Gaucher disease found in a Japanese patient with gastric cancer: A case report.
 

Author(s): Sakura Hosoba, Katsuyuki Kito, Yukako Teramoto, Kaori Adachi, Ryota Nakanishi, Ai Asai, Masaki Iwasa, Rie Nishimura, Suzuko Moritani, Masahiro Kawahara, Hitoshi Minamiguchi, Eiji Nanba, Ryoji Kushima, Akira Andoh

Journal: Medicine (Baltimore). 2018 Jul;97(27):e11361.

 

Gaucher disease (GD) is an autosomal recessive disorder that leads to multiorgan complications caused by β-glucocerebrosidase deficiency due to mutations in the β-glucocerebrosidase-encoding gene (GBA). GD morbidity in Japan is quite rare and clinical phenotype and gene mutation ...

Last Updated: 31 Dec 1969

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Improvement of life quality measured by Lansky Score after enzymatic replacement therapy in children with Gaucher disease type 1.
 

Author(s): Magdalena Cerón-Rodríguez, Edgar Barajas-Colón, Lyuva Ramírez-Devars, Claudia Gutiérrez-Camacho, Juan L Salgado-Loza

Journal: Mol Genet Genomic Med. 2018 01;6(1):27-34.

 

Gaucher disease type 1 (GD1, OMIM# 230800), is a condition with high impact in patient's quality of life (QoL). We report the improvement in QoL of children with GD1 measured by Lansky play-performance scale (LS) after enzymatic replacement therapy (ERT) and to describe our experience ...

Last Updated: 31 Dec 1969

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Combined miglustat and enzyme replacement therapy in two patients with type 1 Gaucher disease: two case reports.
 

Author(s): Dominick Amato, Mary Anne Patterson

Journal:

 

Intravenous enzyme replacement therapy is a first-line therapy for Gaucher disease type 1, and substrate reduction therapy represents an oral treatment alternative. Both enzyme replacement therapy and substrate reduction therapy are generally used as monotherapies in Gaucher disease. ...

Last Updated: 31 Dec 1969

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

Management and monitoring recommendations for the use of eliglustat in adults with type 1 Gaucher disease in Europe.
 

Author(s): Nadia Belmatoug, Maja Di Rocco, Cristina Fraga, Pilar Giraldo, Derralynn Hughes, Elena Lukina, Pierre Maison-Blanche, Martin Merkel, Claus Niederau, Ursula Plӧckinger, Johan Richter, Thomas M Stulnig, Stephan Vom Dahl, Timothy M Cox

Journal: Eur. J. Intern. Med.. 2017 Jan;37():25-32.

 

In Gaucher disease, diminished activity of the lysosomal enzyme, acid β-glucosidase, leads to accumulation of glucosylceramides and related substrates, primarily in the spleen, liver, and bone marrow. Eliglustat is an oral substrate reduction therapy approved in the European Union ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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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: 31 Dec 1969

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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: 22 Jan 2018

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Last Updated: 3 Oct 2018

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GZ/SAR402671 in Combination With Cerezyme in Adult Patients With Gaucher Disease Type 3
 

Status: Recruiting

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

 

Last Updated: 26 Sep 2018

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