Show simple item record

dc.contributor.authorValayannopoulos, V.
dc.contributor.authorSchiff, M.
dc.contributor.authorGuffon, N.
dc.contributor.authorNadjar, Y.
dc.contributor.authorGarcía-Cazorla, A.
dc.contributor.authorMartinez-Pardo Casanova, M.
dc.contributor.authorCano, A.
dc.contributor.authorCouce Pico, María Luz 
dc.contributor.authorDalmau, J.
dc.contributor.authorPeña-Quintana, L.
dc.contributor.authorRigalleau, V.
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.authorHiéronimus, S.
dc.contributor.authorLevrat, V.
dc.contributor.authorMaillot, F.
dc.date.accessioned2021-10-14T12:59:07Z
dc.date.available2021-10-14T12:59:07Z
dc.date.issued2019
dc.identifier.issn1750-1172
dc.identifier.otherhttps://www.ncbi.nlm.nih.gov/pubmed/30871635
dc.identifier.otherhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6419445/pdf/13023_2019_Article_1036.pdf
dc.identifier.urihttp://hdl.handle.net/20.500.11940/15558
dc.description.abstractBACKGROUND: 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.rightsAtribución 4.0 Internacional
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.titleBetaine anhydrous in homocystinuria: results from the RoCH registry
dc.typeArtigoes
dc.authorsophosCouce Pico, María Luz
dc.identifier.doi10.1186/s13023-019-1036-2
dc.identifier.pmid30871635
dc.identifier.sophos31016
dc.issue.number1
dc.journal.titleOrphanet Journal of Rare Diseases
dc.organizationServizo Galego de Saúde::Estrutura de Xestión Integrada (EOXI)::EOXI de Santiago de Compostela - Complexo Hospitalario Universitario de Santiago de Compostela::Pediatría
dc.organizationServizo Galego de Saúde::Estrutura de Xestión Integrada (EOXI)::EOXI de Santiago de Compostela - Complexo Hospitalario Universitario de Santiago de Compostela::Neonatoloxía
dc.page.initial66es
dc.rights.accessRightsopenAccess
dc.subject.keywordCHUS
dc.typefidesArtículo Científico (incluye Original, Original breve, Revisión Sistemática y Meta-análisis)
dc.typesophosArtículo Original
dc.volume.number14


Files in this item

This item appears in the following Collection(s)

Show simple item record

Atribución 4.0 Internacional
Except where otherwise noted, this item's license is described as Atribución 4.0 Internacional