Comparison of Long-term Ambulatory Function in Patients with Duchenne Muscular Dystrophy Treated with Eteplirsen and Matched Natural History Controls.
J Neuromuscul Dis
; 8(4): 469-479, 2021.
Article
en En
| MEDLINE
| ID: mdl-33523015
ABSTRACT
BACKGROUND:
Duchenne muscular dystrophy (DMD) is a rare, X-linked, fatal, degenerative neuromuscular disease caused by DMD gene mutations. A relationship between exon skipping and dystrophin production in exon 51-amenable patients treated with eteplirsen (EXONDYS 51®) is established. Once-weekly eteplirsen significantly increased dystrophin, with slower decline in ambulatory function compared to baseline. Long-term treatment with eteplirsen leads to accumulation of dystrophin over time and observed functional benefits in patients with DMD.OBJECTIVE:
Compare long-term ambulatory function in eteplirsen-treated patients versus controls.METHODS:
Study 201/202 included 12 eteplirsen-treated patients assessed twice/year for ambulatory function over 4 years. Ambulatory evaluations (6-minute walk test [6MWT], loss of ambulation, and North Star Ambulatory Assessment [NSAA]) were compared with matched controls from Italian Telethon and Leuven registries.RESULTS:
At Years 3 and 4, eteplirsen-treated patients demonstrated markedly greater mean 6MWT than controls (difference in change from baseline of 132 m [95%CI (29, 235), pâ=â0.015] at Year 3 and 159âm [95%CI (66, 253), pâ=â0.002] at Year 4). At Year 4, a significantly greater proportion of eteplirsen-treated patients were still ambulant versus controls (10/12 vs 3/11; pâ=â0.020). At Year 3, eteplirsen-treated patients demonstrated milder NSAA decline versus controls (difference in change from baseline of 2.6, 95%CI [-6, 11]), however, the difference was not statistically significant; Year 4 control NSAA data were not available.CONCLUSION:
In this retrospective matched control study, eteplirsen treatment resulted in attenuation of ambulatory decline over a 4-year observation period, supporting long-term benefit in patients with DMD.Palabras clave
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Caminata
/
Distrofia Muscular de Duchenne
/
Morfolinos
Tipo de estudio:
Observational_studies
Límite:
Adolescent
/
Child
/
Humans
/
Male
Idioma:
En
Revista:
J Neuromuscul Dis
Año:
2021
Tipo del documento:
Article
País de afiliación:
Estados Unidos