title: Idebenone treatment in paediatric and adult patients with Friedreich ataxia: long-term follow-up.
abstract: BACKGROUND
  Antioxidant therapy is a new therapeutical approach for patients with Friedreich ataxia.
  
  
  OBJECTIVE
  To assess the effectiveness of long-term idebenone treatment in Friedreich ataxia patients.
  
  
  METHODS
  An open-labelled prospective study. Ten paediatric patients (age range 8-18 years) and 14 adults (age range 18-46 years) with genetic diagnosis of Friedreich ataxia were treated with idebenone (5-20mg/kg/day) for 3-5 years. Neurological evolution was evaluated using the International Cooperative Ataxia Rating Scale (ICARS), and cardiological outcomes using echocardiography.
  
  
  RESULTS
  In paediatric patients, no significant differences were observed in ICARS scores and echocardiographic measurements when comparing baseline status and after 5 years of follow-up. Concerning adult cases, ICARS scores showed a significant increase in neurological dysfunctions during 3 years of therapy (Wilcoxon test, p=0.005), while echocardiographic measurements remained unchanged.
  
  
  CONCLUSIONS
  Our results indicate that longer-term idebenone treatment prevented progression of cardiomyopathy in both paediatric and adult patients, whereas its stabilizing effect on neurological dysfunction was present only in the paediatric population, mainly before puberty. This suggests that the age at which idebenone treatment is initiated may be an important factor in the effectiveness of the therapy.
authors.affiliation: Neuropediatrics Department, Hospital Sant Joan de Déu and Centre for Biomedical Research on Rare Diseases (CIBERER), Barcelona, Spain. pineda@hsjdbcn.org
authors.forename: Mercè
authors.initials: M
authors.lastname: Pineda
authors.forename: Javier
authors.initials: J
authors.lastname: Arpa
authors.forename: Raquel
authors.initials: R
authors.lastname: Montero
authors.forename: Asunción
authors.initials: A
authors.lastname: Aracil
authors.forename: Francisco
authors.initials: F
authors.lastname: Domínguez
authors.forename: Marta
authors.initials: M
authors.lastname: Galván
authors.forename: Anna
authors.initials: A
authors.lastname: Mas
authors.forename: Loreto
authors.initials: L
authors.lastname: Martorell
authors.forename: Cristina
authors.initials: C
authors.lastname: Sierra
authors.forename: Nuria
authors.initials: N
authors.lastname: Brandi
authors.forename: Elena
authors.initials: E
authors.lastname: García-Arumí
authors.forename: Miquel
authors.initials: M
authors.lastname: Rissech
authors.forename: Daniel
authors.initials: D
authors.lastname: Velasco
authors.forename: Juan A
authors.initials: JA
authors.lastname: Costa
authors.forename: Rafael
authors.initials: R
authors.lastname: Artuch
mesh_terms: D000293:Adolescent; D000328:Adult; D000975:Antioxidants / Q000627:therapeutic use*; D002648:Child; D004452:Echocardiography; D005260:Female; D005500:Follow-Up Studies; D005621:Friedreich Ataxia / Q000150:complications / Q000188:drug therapy*; D006331:Heart Diseases / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000209:etiology; D006334:Heart Function Tests; D006801:Humans; D008297:Male; D009460:Neurologic Examination; D009483:Neuropsychological Tests; D016896:Treatment Outcome; D014451:Ubiquinone / Q000031:analogs & derivatives* / Q000627:therapeutic use; D055815:Young Adult
chemical_list: D000975:Antioxidants; D014451:Ubiquinone; C036619:idebenone