Melhora da função muscular e redução das quedas acidentais com o uso de ataluren em distrofia muscular de Duchenne/Becker
USA – ataluren ou PTC-124 é uma droga que tem sido testada para tratamento da mutação de ponto, ou mutação sem sentido das doenças genéticas. Estes resultados agora apresentados são um complemento das informações da pesquisa fase 2 que já tinha demonstrado efeito do ataluren em Duchenne/ Becker. A droga causa redução do número de quedas e aumento da forrça muscular em crianças com Duchenne/Becker.
O resumo pode ser lido abaixo:
(Clinical Neuropathology, 2012;123(6):e64) Improvements in muscle function and accidental falling in ataluren-treated patients with nonsense mutation dystrophinopathy (Duchenne/Becker musculardystrophy)
J. Barth, C.M. McDonald, E. Henricson, T. Abresch, A. Reha, G. Elfring, S. Peltz – USA
Introduction: Duchenne and Becker muscular dystrophy (DBMD) patients progressively lose muscle function and become susceptible to accidental falling. Ataluren is an investigational drug designed to overcome the deleterious effects of nonsense mutations, which are responsible for 13% of DBMD cases. In a pivotal trial in nonsense mutation DBMD (nmDBMD), ataluren 10, 10, 20 mg/kg provided clinical benefit as demonstrated by the primary endpoint of change in 6-min walk distance (6MWD), a measure of global patient function and endurance (p = 0.0584; post hoc analysis).
Objectives: Assess secondary endpoints including timed function tests and patient/caregiver-reported accidental falling, which are discrete measures of patient function.
Methods: Males (5 years old) with nmDBMD were randomized 1:1:1 to placebo; ataluren 10, 10, 20 mg/kg; or ataluren 20, 20, 40 mg/kg orally three times a day and evaluated every 6 weeks for 48 weeks.
Results: The study enrolled 174 subjects (median age 8 years, range 5–20 years; corticosteroid use 123/174 [71%]; median baseline 6MWD 360 m, range 75–554 m). Favorable trends in mean changes from baseline to week 48 for ataluren 10, 10, 20 mg/kg versus placebo were −2.40 s for stair ascend, −1.62 s for stair descend, and −1.35 s for 10-m walk/run. Over 48 weeks, accidental falling declined in the ataluren 10, 10, 20 mg/kg arm relative to placebo (odds ratio = 0.37, p = 0.0239; post hoc analysis). Data from all treatment arms will be presented.
Conclusion: Ataluren 10, 10, 20 mg/kg slowed the loss of muscle function and decreased the frequency of accidental falling relative to placebo. These important findings support the primary endpoint results showing a positive treatment effect for ataluren 10, 10, 20 mg/kg in this population.
