Plasma idebenone monitoring in Friedreich's ataxia patients during a long-term follow-up

作     者：Paredes-Fuentes, Abraham J. Cesar, Sergi Montero, Raquel Latre, Cristina Genoves, Jordi Martorell, Loreto Cuadras, Daniel Colom, Helena Pineda, Merce del Mar O'Callaghan, Maria Sarquella-Brugada, Georgia Darling, Alejandra Artuch, Rafael 

作者机构：Hosp St Joan de Deu Inst Recerca St Joan de Deu Clin Biochem Dept Barcelona 08950 Spain Hosp St Joan de Deu Inherited Cardiac Dis & Sudden Death Unit Arrhythmia Barcelona 08950 Spain Hosp St Joan de Deu Pharm Dept Barcelona 08950 Spain Hosp St Joan de Deu Mol Genet Dept Barcelona 08950 Spain Inst Recerca St Joan de Deu Stat Dept Barcelona 08950 Spain Univ Barcelona Fac Pharm & Food Sci Dept Pharm & Pharmaceut Technol & Phys Chem Barcelona Spain Hosp St Joan de Deu Metab & Ataxia Unit Dept Paediat Neurol Barcelona 08950 Spain Univ Girona Sch Med Med Sci Dept Girona 17004 Spain Inst Salud Carlos III Biomed Network Res Ctr Rare Dis CIBERER Madrid 28029 Spain 

出 版 物：《BIOMEDICINE & PHARMACOTHERAPY》 (生物医学与药物疗法)

年 卷 期：2021年第143卷

页      面：112143-112143页

核心收录：

学科分类：1007[医学-药学(可授医学、理学学位)] 1001[医学-基础医学(可授医学、理学学位)] 10[医学] 

基　　金：'Fundacion Andres Marcio - Ninos contra la Laminopatia', Spain 'Instituto de Salud Carlos III', Spain [FI18/00253, PI17/00109, PI20/00340] European Regional Development Fund "A way to make Europe" CIBERER-ISCIII, Spain 'Asociacion deEnfermos de Patologias Mitocondriales (AEPMI)/Fundacion Ana Carolina Diez Mahou', Spain 

主　　题：Plasma idebenone monitoring Long-term follow-up HPLC with electrochemical detection Friedreich's ataxia 

摘      要：Introduction and objectives: Despite the growing interest and the potential benefits of idebenone as a repurposed drug for different orphan conditions, data regarding its monitoring are scarce. Our main goal was to report plasma idebenone values in a cohort of Friedreich s ataxia (FRDA) patients during a long-term follow-up. Taking advantage of this, we also assessed cardiological and neurological status together with idebenone values and genetic background. Methods: Long-term follow-up retrospective study in 27 FRDA patients with a disease onset at the paediatric age treated with idebenone by compassionate use. Plasma idebenone was measured by HPLC with electrochemical detection. Results: Median plasma idebenone values increased when doses were increased, but apparently linearity was lost in the highest dose group. Marked intraindividual and interindividual differences were observed among patients. We did not find a consistent positive effect after analysis of paired data at the beginning and the end of the study. We only found a correlation between some cardiological measures and the duration of idebenone therapy at high doses, but with uncertain significance Conclusions: The large variations observed among the different individuals involved in this study should be considered for optimization of individual dosage regimens.