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Gaucher Disease (Gaucher's Disease)

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An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement.

Also Known As:

Gaucher's Disease; Gaucher Disease, Type 1; Gaucher Disease, Type 2; Gaucher Disease, Type 3; Infantile Gaucher Disease; Non-Neuronopathic Gaucher Disease; Subacute Neuronopathic Gaucher Disease; Type 2 Gaucher Disease; Type 3 Gaucher Disease; Gauchers Disease; Cerebroside Lipidosis Syndrome; Acid beta-Glucosidase Deficiency; Acid beta-Glucosidase Deficiency Disease; Acute Neuronopathic Gaucher Disease; Chronic Gaucher Disease; Gaucher Disease Type 3; Gaucher Disease, Acute Neuronopathic; Gaucher Disease, Chronic; Gaucher Disease, Infantile; Gaucher Disease, Juvenile; Gaucher Disease, Neuronopathic; Gaucher Disease, Non-Neuronopathic Form; Gaucher Disease, Subacute Neuronopathic Form; Type 1 Gaucher Disease; Acid beta Glucosidase Deficiency; Acid beta Glucosidase Deficiency Disease; Acid beta-Glucosidase Deficiencies; Cerebroside Lipidosis Syndromes; Deficiencies, Acid beta-Glucosidase; Deficiency Disease, Glucocerebrosidase; Deficiency Diseases, Glucocerebrosidase; Deficiency, Acid beta-Glucosidase; Disease, Chronic Gaucher; Disease, Gaucher; Disease, Gaucher's; Disease, Glucocerebrosidase Deficiency; Disease, Infantile Gaucher; Disease, Juvenile Gaucher; Disease, Neuronopathic Gaucher; Disease, Non-Neuronopathic Gaucher; Diseases, Glucocerebrosidase Deficiency; Gaucher Disease, Non Neuronopathic Form; Gaucher Disease, Non-Neuronopathic; Glucocerebrosidase Deficiency Diseases; Glucosylceramide Beta Glucosidase Deficiency Disease; Juvenile Gaucher Disease; Lipidosis Syndrome, Cerebroside; Lipidosis Syndromes, Cerebroside; Non Neuronopathic Gaucher Disease; Syndrome, Cerebroside Lipidosis; Syndromes, Cerebroside Lipidosis; Gaucher Disease Type 1; Gaucher Disease Type 2; Glucocerebrosidase Deficiency Disease; Glucosylceramide Beta-Glucosidase Deficiency Disease; Neuronopathic Gaucher Disease

Networked: 2055 relevant articles (108 outcomes, 165 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Thrombocytopenia (Thrombopenia)
2.	Mucopolysaccharidoses
3.	Fabry Disease (Fabry's Disease)
4.	Globoid Cell Leukodystrophy (Krabbe Disease)
5.	Metachromatic Leukodystrophy (Sulfatide Lipidosis)

Experts

1.	Zimran, Ari: 78 articles (12/2015 - 01/2002)
2.	Elstein, Deborah: 66 articles (12/2015 - 01/2002)
3.	Sidransky, Ellen: 55 articles (08/2015 - 01/2002)
4.	Grabowski, Gregory A: 52 articles (12/2015 - 01/2003)
5.	Aerts, Johannes M F G: 38 articles (04/2015 - 07/2002)
6.	Giraldo, Pilar: 32 articles (07/2015 - 07/2002)
7.	Futerman, Anthony H: 28 articles (06/2015 - 11/2002)
8.	Hollak, Carla E M: 28 articles (01/2014 - 01/2004)
9.	Mistry, Pramod K: 27 articles (02/2015 - 10/2004)
10.	Pastores, Gregory M: 24 articles (12/2014 - 02/2003)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Gaucher Disease:

1.	Glucosylceramidase (Glucocerebrosidase)IBA 05/25/1996 - "Regular intravenous administration of modified glucocerebrosidase, derived from human placentae or CHO cells, has proven highly effective in reducing disease manifestations in patients with Gaucher's disease. " 02/01/1995 - "We conclude from these studies that rapid intracellular degradation of administered glucocerebrosidase is the prime factor responsible for the high dose required for effective treatment of Gaucher's disease." 11/01/2000 - "Finally, our findings may help to better understand the molecular basis of Gaucher disease, the human lysosomal disease resulting from deficiency in glucocerebrosidase." 11/01/1993 - "Novel procedures must be developed to deliver glucocerebrosidase to the nervous system so that patients with type 2 and type 3a Gaucher disease can be helped. " 05/01/2015 - "The determination of deficient β-glucocerebrosidase activity in leukocytes or fibroblasts by enzymatic assay is the gold standard for the diagnosis of Gaucher disease. "
2.	imiglucerase (Cerezyme)FDA Link 06/01/2011 - "The use of the recombinant imiglucerase (Cerezyme™) as intravenous therapy has been safe and effective for the visceral symptoms and signs of Gaucher disease in more than 5000 patients world-wide for more than 18 years. " 04/01/2009 - "This clinical study assessed the safety and efficacy of intravenous imiglucerase infused once every 4 weeks (Q4) compared to once every 2 weeks (Q2) at the same total monthly dose in adult patients with clinically stable Gaucher disease type 1 (GD1). " 04/01/2008 - "Intravenous enzyme replacement with imiglucerase is the accepted standard for treatment of symptomatic patients and has been effective in reducing many of the signs and symptoms of type I Gaucher disease in the majority of patients without serious adverse effects. " 02/01/2007 - "Imiglucerase is a safe therapy for the treatment of Gaucher disease with a stable and low rate of reported adverse events and seroconversion." 03/01/2013 - "Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase."
3.	miglustat (Zavesca)FDA Link 03/01/2002 - "We conclude that OGT 918 was safe and effective at 50 mg TID, but shows dose dependency in ameliorating parameters of Gaucher disease relative to the results noted in the seminal trial; there was no improvement in the rate of hematological response and no reduction in side effects. " 04/29/2000 - "We investigated the safety and efficacy of OGT 918 (N-butyldeoxynojirimycin), an inhibitor of glucosyltransferase, as a novel oral treatment for non-neuronopathic Gaucher's disease. " 02/01/2003 - "Substrate reduction therapy: miglustat as a remedy for symptomatic patients with Gaucher disease type 1." 04/01/2008 - "This review article discusses the results of clinical studies and use of miglustat as a therapeutic agent in patients with type I Gaucher disease." 09/01/2007 - "The safety and tolerability of miglustat 200 mg three times a day in study participants was consistent with previous trials in type I Gaucher disease, where half this dose was used. "
4.	alglucerase (Ceredase)FDA Link 01/01/1992 - "The FDA recently approved Ceredase, a new treatment for Gaucher's disease, under the provisions of the Orphan Drug Act. " 06/10/1995 - "Previous studies have shown that enzyme supplementation therapy with alglucerase for type 1 Gaucher's disease is effective at doses of 30-130 U/kg per month. " 07/01/1992 - "Because of the rarity of Gaucher's disease clinical trials are small, and much of the data investigating alglucerase therapy have been obtained from studies of patients with type 1 disease, the prevalent subtype. " 02/01/2003 - "A 19-year-old male patient with type 1 Gaucher disease was put on regular biweekly infusions of alglucerase. " 12/01/1998 - "Alglucerase treatment of type 1 Gaucher disease with pulmonary involvement."
5.	Mannose (D-Mannose)IBA 01/01/1994 - "Two pediatric female patients with moderately severe type 1 Gaucher disease were treated with commercially available GC, mannose terminated to be macrophage-targeted. " 02/01/1995 - "Mannose-terminal glucocerebrosidase prepared by exoglycosidase digestion of human placental glucocerebrosidase is reported effective in the treatment of patients with type 1 Gaucher's disease [Barton et al. (1991); N Engl J Med 324:1464-1470]. " 10/01/1991 - "We describe here an investigation of the hematologic response of a child with Gaucher disease to a six-year therapeutic trial of human placental mannose-terminated glucocerebrosidase. " 10/10/2006 - "Except for Gaucher disease, for which an enzyme with exposed mannosyl residues targets mannose receptors (MR) on macrophages, ERT targets primarily the mannose 6-phosphate receptor (MPR). " 04/01/2002 - "In anticipation of intracerebral administration of mannose-terminal glucocerebrosidase to patients with type 2 Gaucher disease, it was important to learn the mechanism involved in its cellular uptake. "
6.	Biological Markers (Surrogate Marker)IBA 06/01/2013 - "Here we used optical coherence tomography to demonstrate thinning of the retinal ganglion cell layer in Gaucher disease patients and carriers who manifest clinical markers of potential early neurodegeneration. " 02/01/2013 - "We concluded that there is significant difference in the ADC value of vertebral bone marrow between children with Gaucher's disease and controls, and the ADC value correlated well with genotyping and some biomarkers of disease activity." 09/01/2011 - "[Diagnosis, biomarkers and biochemical alterations in Gaucher's disease]." 08/01/2011 - "Biomarkers in Serbian patients with Gaucher disease." 04/01/2011 - "Biomarkers to monitor neurological dysfunction in Neuronopathic Gaucher disease (NGD) are lacking. "
7.	EnzymesIBA 11/18/2005 - "Thus, TAT-modified GCs represent a novel strategy for a new generation of therapeutic enzymes for ERT for Gaucher disease." 01/01/2004 - "However, results of expression of mutated enzymes are necessary but not sufficient to explain the ultimate clinical outcome of Gaucher disease." 03/01/2001 - "ERT is currently used to treat Gaucher disease and is being developed for several lysosomal storage disorders now that recombinant sources of the enzymes have become available. " 07/16/1993 - "However, this hypothesis would require that activity of both enzymes be low in severe cases of Gaucher disease in which there are pathological accumulations of glucosylceramide in one or more of the affected organs, i.e. " 09/01/1991 - "Yet, the association of neuronopathic phenotypes with alleles producing severely compromised (L444P) or functionally null (P415R) enzymes indicates that the effective level of residual activity at the lysosome is likely to be a major determinant of the severity of Gaucher disease."
8.	ceramide glucosyltransferaseIBA 11/01/2006 - "RNAi-mediated inhibition of the glucosylceramide synthase (GCS) gene: A preliminary study towards a therapeutic strategy for Gaucher disease and other glycosphingolipid storage diseases." 10/01/2015 - "Eliglustat is a novel glucosylceramide synthase inhibitor for long-term oral treatment of type 1 Gaucher disease (GD1), an inherited metabolic disorder. " 10/01/2014 - "Eliglustat [Cerdelga™ (US, EU)], a small-molecule oral glucosylceramide analogue that inhibits the enzyme glucosylceramide synthase has been developed by Genzyme Corporation (a subsidiary of Sanofi) for the treatment of Gaucher disease type 1 in adults. " 10/01/2013 - "Characterization of variants in the glucosylceramide synthase gene and their association with type 1 Gaucher disease severity." 06/01/2013 - "Substrate reduction therapy utilises inhibitors of GlcCer synthase to reduce storage in Gaucher disease. "
9.	chitotriosidaseIBA 05/01/2014 - "The frequency of the 24 bp duplication was remarkably high in both Korean patients with Gaucher disease and in the normal population, limiting the efficacy of chitotriosidase as a biomarker in Gaucher disease in Korea. " 05/01/2014 - "Two patients with Gaucher disease (13.3%) had normal plasma chitotriosidase activity, and carried a homozygous 24 bp duplication of exon 10 of the CHIT1 gene. " 05/01/2014 - "However, homozygous duplication of a 24 bp region in exon 10 of the chitotriosidase gene (CHIT1) abolishes enzyme activity, limiting its use as a biomarker in Gaucher disease. " 05/01/2014 - "Plasma chitotriosidase activity is used for diagnosis and monitoring of Gaucher disease. " 01/01/2014 - "Although, about 6% of Caucasians have enzyme deficiency due to homozygosity of 24-bp duplication mutation in the chitotriosidase gene, it is currently established as a screening marker and therapeutic monitor for Gaucher's disease. "
10.	Imino SugarsIBA 03/01/2009 - "Promising results of the chaperone effect caused by imino sugars and aminocyclitol derivatives on mutant glucocerebrosidases causing Gaucher disease." 01/01/2002 - "Two such approaches that use imino sugars to affect glycosylation enzymes now show considerable promise in the treatment of viral infections, such as hepatitis B, and glucosphingolipid storage disorders, such as Gaucher disease."

Therapies and Procedures

1.	Enzyme Replacement Therapy 05/01/2006 - "The treatment of type 1 Gaucher disease has dramatically improved with the development of enzyme replacement therapy (ERT). " 01/01/2006 - "Enzyme replacement therapy (ERT) was eventually shown to be extraordinarily effective for patients with Gaucher disease, the most prevalent metabolic storage disorder of humans. " 11/17/1998 - "The management of severe Gaucher's disease was dramatically improved by the development of enzyme replacement therapy. " 06/01/1994 - "Enzyme replacement therapy is highly effective for patients with Type 1 Gaucher disease. " 11/01/1993 - "Enzyme replacement therapy is highly beneficial for patients with type 1 Gaucher disease. "
2.	Enzyme Therapy 05/01/2003 - "Enzyme therapy has proven safe and effective in preventing and reversing many manifestations in patients with Gaucher disease. " 11/01/2009 - "Enzyme therapy for Gaucher disease has improved the lives of many patients, by reducing the burden of their disease. " 01/01/2012 - "Adult type 1 Gaucher disease patients stabilized during at least 3 years of previous enzyme therapy were included in this 2-year, prospective, open-label non-inferiority study. " 07/15/1993 - "This study shows similar regression of clinical Gaucher disease manifestations with enzyme therapy, using doses between 30 and 60 IU/kg every 2 weeks. " 12/01/2011 - "Individualized long-term enzyme therapy for Gaucher disease type 1 in Slovenia."
3.	Bone Marrow Transplantation (Transplantation, Bone Marrow) 12/01/1995 - "Following the success of bone marrow transplantation, gene therapy trials using transduced human hematopoietic cells are beginning in Gaucher's disease, which should lead to autologous bone marrow transplantation using genetically engineered cells. " 04/01/2005 - "Gaucher disease has been treated by allogeneic bone marrow transplantation (BMT), however, severe bone involvement that is probably the most disabling aspect of this disease is difficult to reverse. " 12/01/1998 - "Gaucher's disease is a serious disorder which becomes curable by bone marrow transplantation. " 08/15/1998 - "This assay is therefore of significant value to monitor the success of therapeutic strategies for Gaucher disease such as enzyme supplementation therapy, allogeneic bone marrow transplantation, and gene therapy." 06/01/1997 - "Allogeneic bone marrow transplantation for Gaucher disease--a case report."
4.	Splenectomy 03/01/2014 - "Splenectomy may worsen skeletal and lung manifestations in Gaucher disease. " 08/01/2009 - "Three of them were easily diagnosed with Gaucher's disease via bone marrow cytology, and one with Gaucher's disease was detected by pathological examination following the splenectomy. " 08/01/2009 - "Gaucher's disease diagnosed by splenectomy." 09/01/2006 - "Data from 72 patients (46 were male and 26 female, age ranged from 16 months to 22 years, median 8 years and 8 months) who were treated in the hospital between May 1999 and October 2005 were collected and analyzed, 57 of the patients had type 1 Gaucher disease, 2 patients with type 2, and 13 patients with type 3. Twenty-two patients had undergone total splenectomy. " 09/01/2005 - "To investigate the effect of Gaucher disease on blood and plasma viscosity, erythrocyte aggregation and erythrocyte deformability, and to determine whether observed rheological differences could be attributed to splenectomy. "
5.	Hepatectomy 02/01/2011 - "After achieving good results in experimental studies and obtaining approval from our ethics committee, we used electrocautery greased with lidocaine gel for hemostasis in the following 36 procedures: multisegmental hepatectomy to remove hepatic tumors (n = 6); partial hepatectomy to allow hepatojejunostomy for intrahepatic biliary obstruction (n = 10); laparoscopic liver biopsy (n = 4); subtotal splenectomy (n = 8; for portal hypertension in 5 patients, splenic ischemia in 2, and Gaucher's disease in 1); laparoscopic splenic biopsy (n = 1); and bone resection (n = 7; as pelvic-femoral resection in 6 patients and to remove a rectal tumor invading the coccyx in 1). "