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Betaine anhydrous in homocystinuria: results from the RoCH registry

dc.rights.licenseopenen_US
dc.contributor.authorVALAYANNOPOULOS, V.
dc.contributor.authorSCHIFF, M.
dc.contributor.authorGUFFON, N.
dc.contributor.authorNADJAR, Y.
dc.contributor.authorGARCIA-CAZORLA, A.
dc.contributor.authorMARTINEZ-PARDO CASANOVA, M.
dc.contributor.authorCANO, A.
dc.contributor.authorCOUCE, M. L.
dc.contributor.authorDALMAU, J.
dc.contributor.authorPENA-QUINTANA, L.
hal.structure.identifierBordeaux population health [BPH]
dc.contributor.authorRIGALLEAU, Vincent
dc.contributor.authorTOUATI, G.
dc.contributor.authorALDAMIZ-ECHEVARRIA, L.
dc.contributor.authorCATHEBRAS, P.
dc.contributor.authorEYER, D.
dc.contributor.authorBRUNET, D.
dc.contributor.authorDAMAJ, L.
dc.contributor.authorDOBBELAERE, D.
dc.contributor.authorGAY, C.
dc.contributor.authorHIERONIMUS, S.
dc.contributor.authorLEVRAT, V.
dc.contributor.authorMAILLOT, F.
dc.date.accessioned2020-07-24T09:06:55Z
dc.date.available2020-07-24T09:06:55Z
dc.date.issued2019-03-14
dc.identifier.issn1750-1172 (Electronic) 1750-1172 (Linking)en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/10670
dc.description.abstractEnBACKGROUND: The Registry of Adult and Paediatric Patients Treated with Cystadane(R) - Homocystinuria (RoCH) is a non-interventional, observational, multi-centre, post-authorization safety study that aimed to identify safety of betaine anhydrous (Cystadane(R)) in the treatment of patients with inborn errors of homocysteine metabolism (homocystinuria) in order to minimise the treatment associated risks and establish better knowledge on its clinical use. The registry included patients of all ages with homocystinuria who were treated with betaine anhydrous in conjunction with other therapies. Clinical data were collected retrospectively from 2007 to 2013, then prospectively up to February 2014. All adverse events (AEs) reported during the study were recorded. The clinical and biological status of patients was monitored at least once a year. RESULTS: A total of 125 patients with homocystinuria (adults [> 18 years]: 50; paediatric [</=18 years]: 75) were enrolled at 29 centres in France and Spain. Patients were treated with betaine anhydrous for a mean duration of 7.4 +/- 4.3 years. The median total daily dose of betaine anhydrous at the first and last study visits was 6 g/day for cystathionine beta-synthase (CBS)-deficient vitamin B6 responders and 9 g/day for methylenetetrahydrofolate reductase-deficient patients, while the median daily dose increased in CBS-deficient B6 non-responders (from 6 to 9 g/day) and cobalamin metabolism-defective patients (from 3 to 6 g/day) between the first and last visits. Treatment caused a mean overall reduction of 29% in plasma homocysteine levels in the study population. A total of 277 AEs were reported during the study, of which two non-serious AEs (bad taste and headache) and one serious AE (interstitial lung disease) were considered to be drug related. Overall, betaine anhydrous was well tolerated with no major safety concerns. CONCLUSIONS: Data from the RoCH registry provided real-world evidence on the clinical safety and efficacy of betaine anhydrous in the management of homocystinuria in paediatric and adult patients.
dc.language.isoENen_US
dc.rightsAttribution 3.0 United States
dc.rights.urihttps://creativecommons.org/licenses/by/3.0/us/
dc.subject.enLEHA
dc.title.enBetaine anhydrous in homocystinuria: results from the RoCH registry
dc.title.alternativeOrphanet J Rare Disen_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1186/s13023-019-1036-2en_US
dc.subject.halSciences du Vivant [q-bio]/Santé publique et épidémiologieen_US
dc.identifier.pubmed30871635en_US
bordeaux.journalOrphanet Journal of Rare Diseasesen_US
bordeaux.page66en_US
bordeaux.volume14en_US
bordeaux.hal.laboratoriesBordeaux Population Health Research Center (BPH) - U1219en_US
bordeaux.issue1en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.teamLEHA_BPH
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
hal.identifierhal-03169091
hal.version1
hal.date.transferred2021-03-15T09:04:17Z
hal.exporttrue
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