Pompe disease (PD) is a glycogen storage disorder caused by deficient activity of acid alpha-glucosidase (GAA). We sought to review the latest available evidence on the safety and efficacy of recombinant human GAA enzyme replacement therapy (ERT) for late-onset PD (LOPD). Methods: We systematically searched the MEDLINE (via PubMed), Embase, and Cochrane databases for prospective clinical studies evaluating ERT for LOPD on pre-specified outcomes. A meta-analysis was also performed. Results: Of 1601 articles identified, 22 were included. Studies were heterogeneous and with very low certainty of evidence for most outcomes. The following outcomes showed improvements associated with GAA ERT, over a mean follow-up of 32.5 months: distance walked in the 6-min walking test (6MWT) (mean change 35.7 m (95% confidence interval [CI] 7.78, 63.75)), physical domain of the SF-36 quality of life (QOL) questionnaire (mean change 1.96 (95% CI 0.33, 3.59)), and time on ventilation (TOV) (mean change −2.64 h (95% CI −5.28, 0.00)). There were no differences between the pre- and post-ERT period for functional vital capacity (FVC), Walton and Gardner-Medwin Scale score, upper-limb strength, or total SF-36 QOL score. Adverse events (AEs) after ERT were mild in most cases. Conclusion: Considering the limitations imposed by the rarity of PD, our data suggest that GAA ERT improves 6MWT, physical QOL, and TOV in LOPD patients. ERT was safe in the studied population. PROSPERO register: 135102.
Resumo Este estudo teve por objetivo investigar os fatores que interferem no processo de inclusão de bebês com deficiência física no berçário, na perspectiva das educadoras. Participaram 11 educadoras de duas creches públicas que tinham bebês com deficiência física incluídos no berçário. A análise qualitativa dos relatos das educadoras apontou diversos fatores que interferem na inclusão, atribuídos às educadoras, ao bebê com deficiência e seus colegas, à creche, ao município e a outros profissionais. Nenhum aspecto foi ressaltado com relação à família dos bebês com deficiência, o que remete à dificuldade das educadoras em perceber as famílias como agentes da inclusão. Salienta-se que mesmo transcorridos mais de 20 anos das principais declarações e leis que representam as políticas de educação na perspectiva inclusiva, a inclusão ainda ocorre de forma incipiente, sem que se dedique prioridade de investimentos na educação. Isso remete à necessidade de pesquisas e intervenções na área.
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