ReviewPhilosophical transactions of the Royal Society of London. Series B, Biological sciences2003
Gaucher disease and the clinical experience with substrate reduction therapy.
Review in Philosophical transactions of the Royal Society of London. Series B, Biological sciences, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 77 citations in OpenAlex.
- Drug treatment of inborn errors of metabolism: a systematic review.Archives of disease in childhood · 2013Pooled it
- Discovery of platelet glycoprotein VI receptor antagonists and their neuroprotective activity: an in silico, in vitro, and in vivo study.3 Biotech · 2025Article
- Current opinion on pluripotent stem cell technology in Gaucher's disease: challenges and future prospects.Cytotechnology · 2025Review
- Allogeneic hematopoietic stem cell transplantation for treating severe lung involvement in Gaucher disease.Molecular genetics and metabolism reports · 2020Article
- Applicability and added value of novel methods to improve drug development in rare diseases.Orphanet journal of rare diseases · 2018Article
- Update on Pharmacological Treatment of Progressive Myoclonus Epilepsies.Current pharmaceutical design · 2017Review
- Disease models for the development of therapies for lysosomal storage diseases.Annals of the New York Academy of Sciences · 2016Review
- Pharmacological Chaperones and Coenzyme Q10 Treatment Improves Mutant β-Glucocerebrosidase Activity and Mitochondrial Function in Neuronopathic Forms of Gaucher Disease.Scientific reports · 2015Article
- The consequences of genetic and pharmacologic reduction in sphingolipid synthesis.Journal of inherited metabolic disease · 2015Review
- Respiratory manifestations in patients with inherited metabolic diseases.European respiratory review : an official journal of the European Respiratory Society · 2013Review
- Identification and characterization of pharmacological chaperones to correct enzyme deficiencies in lysosomal storage disorders.Assay and drug development technologies · 2011Review
- Splenomegaly, cardiomegaly, and osteoporosis in a child with Gaucher disease.Case reports in pediatrics · 2011Article
- The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidase.The FEBS journal · 2010Article
- Gene silencing of EXTL2 and EXTL3 as a substrate deprivation therapy for heparan sulphate storing mucopolysaccharidoses.European journal of human genetics : EJHG · 2010Article
- Glycosidase inhibition: assessing mimicry of the transition state.Organic & biomolecular chemistry · 2010Review
- Review of miglustat for clinical management in Gaucher disease type 1.Therapeutics and clinical risk management · 2008Article
- Future perspectives for glycolipid research in medicine.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2003Review
- A historical perspective of the glycosphingolipids and sphingolipidoses.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2003Article
- Small-molecule therapeutics for the treatment of glycolipid lysosomal storage disorders.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2003Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Gaucher disease is caused by an enzymatic defect with consequent accumulation of glucocerebroside. Type I, the non-neuronopathic form, is rather common and panethnic. Patients may present with hepatosplenomegaly, anaemia, thrombocytopenia and skeletal or lung involvement. Enzyme replacement therapy ameliorates disease symptoms and signs; however, it involves lifelong intravenous therapy, is costly and is incapable of crossing the blood-brain barrier. Substrate reduction with N-butyldeoxynojirimycin (OGT 918) is a harbinger of oral iminosugars for glycolipid storage disorders. Long-term data in the seminal trial (100 mg three times per day), demonstrate safety and efficacy in adult type I patients naive to enzyme therapy, and suggest its application in patients unwilling or unable to receive enzyme replacement and tolerating side effects, including diarrhoea, weight loss, tremor and peripheral neuropathy (mostly reversible with dose reduction or withdrawal). Dose dependency was demonstrated with 50 mg three times per day. In patients stabilized on enzyme therapy switched from or in combination with enzyme, no deterioration in disease parameters was seen but side effects were as above. Although efficacy is less dramatic than enzyme treatment, it may be that plateaux are achieved asymptotically so therapeutic outcomes with OGT 918 may ultimately be comparable. Yet, given the above side effects and the lack of long-term experience, patients with very mild manifestations would probably not be appropriate candidates.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.