ArticleUpsala journal of medical sciences2012
Substrate reduction therapy with miglustat for type 1 Gaucher disease: a retrospective analysis from a single institution.
Article in Upsala journal of medical sciences, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 30 citations in OpenAlex.
- Progress in the understanding and treatment of Fabry disease.Biochimica et biophysica acta. General subjects · 2020Review
- Endocrine and metabolic disorders in patients with Gaucher disease type 1: a review.Orphanet journal of rare diseases · 2019Review
- Lysosomal Leukodystrophies Lysosomal Storage Diseases Associated With White Matter Abnormalities.Journal of child neurology · 2019Review
- A Prospective Treatment Option for Lysosomal Storage Diseases: CRISPR/Cas9 Gene Editing Technology for Mutation Correction in Induced Pluripotent Stem Cells.Diseases (Basel, Switzerland) · 2017Review
- The appearance of newly identified intraocular lesions in Gaucher disease type 3 despite long-term glucocerebrosidase replacement therapy.Upsala journal of medical sciences · 2016Article
- Impact of imiglucerase supply shortage on clinical and laboratory parameters in Norrbottnian patients with Gaucher disease type 3.Archivum immunologiae et therapiae experimentalis · 2015Article
- Depletion of globosides and isoglobosides fully reverts the morphologic phenotype of Fabry disease.Cell and tissue research · 2014Article
- Recurrent pulmonary aspergillosis and mycobacterial infection in an unsplenectomized patient with type 1 Gaucher disease.Upsala journal of medical sciences · 2014Article
- Ethylenedioxy-PIP2 oxalate reduces ganglioside storage in juvenile Sandhoff disease mice.Neurochemical research · 2013Article
- Interdiction of sphingolipid metabolism to improve standard cancer therapies.Advances in cancer research · 2013Review
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionGaucher disease (GD) is an infrequent progressive multisystem lysosomal storage disorder caused by the deficient activity of the lysosomal enzyme, glucocerebrosidase. A retrospective, single-center analysis of the clinical experience concerning the use of miglustat (N-butyldeoxynojirimycin), an oral inhibitor of glucosylceramide synthase, in type 1 Gaucher disease (GD1) was conducted to evaluate the efficacy, adverse events (AE), and outcome of miglustat therapy. PATIENTS AND
methodsSix adult Caucasian patients with GD1 (two women and four men), aged 21-81 years (median age 59 years), were treated with miglustat between October 2005 and April 2011. All but one patient (83%) carried at least one allele with c.1226A>G (N370S) mutation in the GBA1 gene.
resultsWeight loss, diarrhea, poor appetite, and tremor were frequently reported AE by the patients. All of them experienced at least 2 AE, and three patients (50%) experienced at least 4 AE. Only two out of six patients (33%) have used miglustat longer than 12 months, of which only one used it longer than 15 months.
conclusionsThe major obstacle to successful miglustat therapy in GD1 was the high proportion of patients discontinuing their treatment due to the AE and the worsened quality of life. Further efforts are needed to improve tolerability of miglustat and, in consequence, compliance of patients treated with this orphan drug.
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