Enzyme replacement therapy and extended newborn screening for mucopolysaccharidoses: Opinions of treating physicians

Abstract

We conducted a survey of physician opinions in relation to enzyme replacement therapy (ERT) and extended newborn screening (ENBS) for mucopolysaccharidoses (MPS). A questionnaire consisting of hypothetical clinical scenarios about ERT and ENBS for MPS was posted on metab-L, a list server for the metabolic community. The questionnaire included similar questions to those used in previous studies that sought the views of individuals and families affected by MPS. Our aim was to compare medical professionals’ opinions with that of the individuals and families affected by MPS that they serve. The questionnaire was completed by 35 physicians, most of whom were metabolic physicians. Responses differ..