RESUMO
This analysis aims to describe the outcomes of two nonambulatory patients with Duchenne muscular dystrophy (DMD) who participated in two clinical studies. The two consecutive trials of eteplirsen (studies 201 and 202) were conducted in patients with DMD (Nâ=â12) and confirmed genetic mutations amenable to exon 51 skipping.In study 201, 12 patients were randomized to receive once-weekly, double-blind intravenous infusions of eteplirsen 30 or 50âmg/kg or placebo for 24 weeks; patients then received open-label eteplirsen during weeks 25 through 28. All 12 patients continued onto open-label extension study 202 and received long-term treatment with eteplirsen. We compared cardiac, pulmonary, and upper limb function and dystrophin production in the nonambulatory twin patients versus the 10 ambulatory patients through 240 combined treatment weeks.Ten study patients remained ambulatory through both studies, while the identical twin patients both experienced early, rapid loss of ambulation. The twin patients had greater disease severity at baseline (6-minute walk test [6MWT], 330 and 256âm) versus the other patients (nâ=â10; 6MWT range, 341-418âm). They maintained cardiac and upper limb function through combined week 240, with outcomes similar to those of the patients who remained ambulatory. Dystrophin production was confirmed following eteplirsen treatment.Despite the loss of ambulation, other markers of disease progression remained relatively stable in the eteplirsen-treated twin patients and were similar to those of the ambulatory patients.
Assuntos
Morfolinos/uso terapêutico , Distrofia Muscular de Duchenne/tratamento farmacológico , Criança , Progressão da Doença , Doenças em Gêmeos , Método Duplo-Cego , Distrofina/genética , Distrofina/metabolismo , Humanos , Masculino , Morfolinos/efeitos adversos , Distrofia Muscular de Duchenne/genética , Distrofia Muscular de Duchenne/fisiopatologia , Processamento Pós-Transcricional do RNA/efeitos dos fármacos , Índice de Gravidade de Doença , Resultado do Tratamento , Teste de Caminhada , CaminhadaRESUMO
Cord blood transplantation has been used extensively in the allogeneic setting for acquired and genetic disorders of hematopoiesis. There is less experience in the utility of autologous cord blood transplantation, and there is great controversy about the role of autologous cord blood collection and storage. We report on the successful use of autologous cord blood transplantation for the treatment of severe aplastic anemia following fulminant hepatic failure and living related liver transplantation.