MARIA BERNADETE DUTRA DE RESENDE
Índice h a partir de 2011
8
Projetos de Pesquisa
Unidades Organizacionais
Instituto Central, Hospital das Clínicas, Faculdade de Medicina - Médico
5 resultados
Resultados de Busca
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conferenceObject Ataluren preserves upper limb function in nmDMD patients from Study 041, a phase 3 placebo-controlled trial, and the STRIDE Registry(2022) MCDONALD, C.; MERCURI, E.; MUNTONI, F.; GORDISH-DRESSMAN, H.; MORGENROTH, L.; RESENDE, Dutra M. de; ZHOU, S.; NEEHARIKA, M.; HAGINOYA, K.; RAMOS-PLATT, L.; WILLIAMS, P.; PENEMATSA, V; CHOU, C.; LIN, M.; JOHNSON, S.; WERNER, C.; TRIFILLIS, P.- Safety and effectiveness of ataluren in patients with nonsense mutation DMD in the STRIDE Registry compared with the CINRG Duchenne Natural History Study (2015-2022): 2022 interim analysis(2023) MERCURI, Eugenio; OSORIO, Andres Nascimento; MUNTONI, Francesco; BUCCELLA, Filippo; DESGUERRE, Isabelle; KIRSCHNER, Janbernd; TULINIUS, Mar; RESENDE, Maria Bernadete Dutra de; MORGENROTH, Lauren P.; GORDISH-DRESSMAN, Heather; JOHNSON, Shelley; KRISTENSEN, Allan; WERNER, Christian; TRIFILLIS, Panayiota; HENRICSON, Erik K.; MCDONALD, Craig M.ObjectiveStrategic Targeting of Registries and International Database of Excellence (STRIDE) is an ongoing, international, multicenter registry of real-world ataluren use in individuals with nonsense mutation Duchenne muscular dystrophy (nmDMD) in clinical practice. This updated interim report (data cut-off: January 31, 2022), describes STRIDE patient characteristics and ataluren safety data, as well as the effectiveness of ataluren plus standard of care (SoC) in STRIDE versus SoC alone in the Cooperative International Neuromuscular Research Group (CINRG) Duchenne Natural History Study (DNHS).MethodsPatients are followed up from enrollment for at least 5 years or until study withdrawal. Propensity score matching was performed to identify STRIDE and CINRG DNHS patients who were comparable in established predictors of disease progression.ResultsAs of January 31, 2022, 307 patients were enrolled from 14 countries. Mean (standard deviation [SD]) ages at first symptoms and at genetic diagnosis were 2.9 (1.7) years and 4.5 (3.7) years, respectively. Mean (SD) duration of ataluren exposure was 1671 (56.8) days. Ataluren had a favorable safety profile; most treatment-emergent adverse events were mild or moderate and unrelated to ataluren. Kaplan-Meier analyses demonstrated that ataluren plus SoC significantly delayed age at loss of ambulation by 4 years (p < 0.0001) and age at decline to %-predicted forced vital capacity of < 60% and < 50% by 1.8 years (p = 0.0021) and 2.3 years (p = 0.0207), respectively, compared with SoC alone.ConclusionLong-term, real-world treatment with ataluren plus SoC delays several disease progression milestones in individuals with nmDMD. NCT02369731; registration date: February 24, 2015.
- Congenital Muscular Dystrophy With Dropped Head Linked to the LMNA Gene in a Brazilian Cohort(2014) PASQUALIN, Livia M. A.; REED, Umbertina C.; COSTA, Thais V. M. M.; QUEDAS, Elisangela; ALBUQUERQUE, Marco A. V.; RESENDE, Maria B. D.; RUTKOWSKI, Anne; CHADI, Gerson; ZANOTELI, EdmarBACKGROUND: Congenital muscular dystrophy is a clinically and genetically heterogeneous group of myopathies. Congenital muscular dystrophy related to lamin A/C is rare and characterized by early-onset hypotonia with axial muscle weakness typically presenting with a loss in motor acquisitions within the first year of life and a dropped-head phenotype. METHODS: Here we report the clinical and histological characteristics of four unrelated Brazilian patients with dropped-head syndrome and mutations in the LMNA gene. RESULTS: All patients had previously described mutations (p.E358K, p.R249W, and p.N39S) and showed pronounced cervical muscle weakness, elevation of serum creatine kinase, dystrophic pattern on muscle biopsy, and respiratory insufficiency requiring ventilatory support. Three of the patients manifested cardiac arrhythmias, and one demonstrated a neuropathic pattern on nerve conduction study. CONCLUSION: Although lamin A/C related congenital muscular dystrophy is a clinically distinct and recognizable phenotype, genotype/phenotype correlation, ability to anticipate onset of respiratory and cardiac involvement, and need for nutritional support remain difficult.
- Safety and effectiveness of ataluren in patients with nonsense mutation DMD in the STRIDE Registry compared with the CINRG Duchenne Natural History Study (2015-2022): 2022 interim analysis (vol 270, pg 3896, 2023)(2023) MERCURI, Eugenio; OSORIO, Andres Nascimento; MUNTONI, Francesco; BUCCELLA, Filippo; DESGUERRE, Isabelle; KIRSCHNER, Janbernd; TULINIUS, Mar P.; RESENDE, Maria Bernadete Dutra de; MORGENROTH, Lauren; GORDISH-DRESSMAN, Heather; JOHNSON, Shelley; KRISTENSEN, Allan; WERNER, Christian K.; TRIFILLIS, Panayiota M.; HENRICSON, Erik; MCDONALD, Craig
- Ataluren Preserves Upper Limb Function in nmDMD Patients from Study 041, a Phase 3 Placebo-Controlled Trial, and the STRIDE Registry(2023) MCDONALD, Craig M.; MERCURI, Eugenio; MUNTONI, Francesco; GORDISH-DRESSMAN, Heather; MORGENROTH, Lauren P.; RESENDE, Maria Bernadete Dutra De; ZHOU, Shuizhen; NEEHARIKA, Mathukumalli Lakshmi; HAGINOYA, Kazuhiro; RAMOS-PLATT, Leigh; WILLIAMS, Paula; PENEMATSA, Vinay; CHOU, Connie; LIN, Min; JOHNSON, Shelley; KOLADICZ, Karyn; MASTRANDREA, Nicholas; WERNER, Christian; TRIFILLIS, Panayiota