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

Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry.
 

Author(s): Pramod K Mistry, Julie L Batista, Hans C Andersson, Manisha Balwani, Thomas Andrew Burrow, Joel Charrow, Paige Kaplan, Aneal Khan, Priya S Kishnani, Edwin H Kolodny, Barry Rosenbloom, C Ronald Scott, Neal Weinreb

Journal: Am. J. Hematol.. 2017 Sep;92(9):929-939.

 

This study tests the hypothesis that the prevalence of severe clinical manifestations in Gaucher disease type 1 (GD1) patients at the time of treatment initiation has changed since alglucerase/imiglucerase enzyme replacement therapy (ERT) was approved in the United States (US) in ...

Last Updated: 1 Jun 2017

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Case report of unexpected gastrointestinal involvement in type 1 Gaucher disease: comparison of eliglustat tartrate treatment and enzyme replacement therapy.
 

Author(s): Yoo-Mi Kim, Dong Hoon Shin, Su Bum Park, Chong Kun Cheon, Han-Wook Yoo

Journal:

 

Gastrointestinal involvement in Gaucher disease is very rare, and appears to be unresponsive to enzyme replacement therapy (ERT).

Last Updated: 16 May 2017

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Eliglustat maintains long-term clinical stability in patients with Gaucher disease type 1 stabilized on enzyme therapy.
 

Author(s): Timothy M Cox, Guillermo Drelichman, Renata Cravo, Manisha Balwani, Thomas Andrew Burrow, Ana Maria Martins, Elena Lukina, Barry Rosenbloom, Ozlem Goker-Alpan, Nora Watman, Amal El-Beshlawy, Priya S Kishnani, Maria Lucia Pedroso, Sebastiaan J M Gaemers, Regina Tayag, M Judith Peterschmitt

Journal: Blood. 2017 Apr;129(17):2375-2383.

 

In the phase 3 Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease Who Have Reached Therapeutic Goals With Enzyme Replacement Therapy (ENCORE), at 1 year, eliglustat was noninferior to imiglucerase enzyme therapy in maintaining stable platelet counts, hemoglobin ...

Last Updated: 7 Feb 2017

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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: 14 Aug 2016

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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: 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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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: 30 Aug 2017

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Last Updated: 2 Oct 2017

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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: 7 Jun 2017

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