Idebenone treatment in paediatric and adult patients with Friedreich ataxia: long-term follow-up.
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.
Pineda
Mercè
M
Neuropediatrics Department, Hospital Sant Joan de Déu and Centre for Biomedical Research on Rare Diseases (CIBERER), Barcelona, Spain. pineda@hsjdbcn.org
Arpa
Javier
J
Montero
Raquel
R
Aracil
Asunción
A
Domínguez
Francisco
F
Galván
Marta
M
Mas
Anna
A
Martorell
Loreto
L
Sierra
Cristina
C
Brandi
Nuria
N
García-Arumí
Elena
E
Rissech
Miquel
M
Velasco
Daniel
D
Costa
Juan A
JA
Artuch
Rafael
R
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
D000975:Antioxidants; D014451:Ubiquinone; C036619:idebenone