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dc.contributor.authorSchiffmann, R
dc.contributor.authorBichet, DG
dc.contributor.authorJovanovic, A
dc.contributor.authorHughes, DA
dc.contributor.authorGiugliani, R
dc.contributor.authorFeldt-Rasmussen, U
dc.contributor.authorShankar, SP
dc.contributor.authorBarisoni, L
dc.contributor.authorColvin, RB
dc.contributor.authorJennette, JC
dc.contributor.authorHoldbrook, F
dc.contributor.authorMulberg, A
dc.contributor.authorCastelli, JP
dc.contributor.authorSkuban, N
dc.contributor.authorBarth, JA
dc.contributor.authorNicholls, K
dc.date.accessioned2020-12-17T03:47:14Z
dc.date.available2020-12-17T03:47:14Z
dc.date.issued2018-04-27
dc.identifierpii: 10.1186/s13023-018-0813-7
dc.identifier.citationSchiffmann, R., Bichet, D. G., Jovanovic, A., Hughes, D. A., Giugliani, R., Feldt-Rasmussen, U., Shankar, S. P., Barisoni, L., Colvin, R. B., Jennette, J. C., Holdbrook, F., Mulberg, A., Castelli, J. P., Skuban, N., Barth, J. A. & Nicholls, K. (2018). Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial. ORPHANET JOURNAL OF RARE DISEASES, 13 (1), https://doi.org/10.1186/s13023-018-0813-7.
dc.identifier.issn1750-1172
dc.identifier.urihttp://hdl.handle.net/11343/255030
dc.description.abstractBACKGROUND: Fabry disease is frequently characterized by gastrointestinal symptoms, including diarrhea. Migalastat is an orally-administered small molecule approved to treat the symptoms of Fabry disease in patients with amenable mutations. METHODS: We evaluated minimal clinically important differences (MCID) in diarrhea based on the corresponding domain of the patient-reported Gastrointestinal Symptom Rating Scale (GSRS) in patients with Fabry disease and amenable mutations (N = 50) treated with migalastat 150 mg every other day or placebo during the phase 3 FACETS trial (NCT00925301). RESULTS: After 6 months, significantly more patients receiving migalastat versus placebo experienced improvement in diarrhea based on a MCID of 0.33 (43% vs 11%; p = .02), including the subset with baseline diarrhea (71% vs 20%; p = .02). A decline in kidney peritubular capillary globotriaosylceramide inclusions correlated with diarrhea improvement; patients with a reduction > 0.1 were 5.6 times more likely to have an improvement in diarrhea than those without (p = .031). CONCLUSIONS: Migalastat was associated with a clinically meaningful improvement in diarrhea in patients with Fabry disease and amenable mutations. Reductions in kidney globotriaosylceramide may be a useful surrogate endpoint to predict clinical benefit with migalastat in patients with Fabry disease. TRIAL REGISTRATION: NCT00925301 ; June 19, 2009.
dc.languageEnglish
dc.publisherBMC
dc.titleMigalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial
dc.typeJournal Article
dc.identifier.doi10.1186/s13023-018-0813-7
melbourne.affiliation.departmentMedicine and Radiology
melbourne.source.titleOrphanet Journal of Rare Diseases
melbourne.source.volume13
melbourne.source.issue1
dc.rights.licenseCC BY
melbourne.elementsid1329314
melbourne.contributor.authorNicholls, Kathleen
dc.identifier.eissn1750-1172
melbourne.accessrightsOpen Access


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