SummaryBackgroundPompe disease is an inheritable metabolic disorder for which enzyme replacement therapy (ERT) has been available since 2006. Effects of ERT have been shown on distance walked, pulmonary function and survival. We investigated whether it also improves quality of life and participation in daily life in adult patients with the disease.MethodsIn an international survey, we assessed quality of life (Short Form 36, SF-36) and participation (Rotterdam Handicap Scale, RHS) annually between 2002 and 2012. Repeated measurements mixed effects models were used to describe the data over time.ResultsResponses were available for 174 adult patients. In the periods before and after start of ERT, the median follow-up times were 4 years each (range 0.5-8). The SF-36 Physical Component Summary measure (PCS) deteriorated before ERT (-0.73 score points per year (sp/y); CI 95 % -1.07 to -0.39), while it improved in the first 2 years of ERT (1.49 sp/y; CI 0.76 to 2.21), and remained stable thereafter. The Mental Component Summary measure (MCS) remained stable before and during ERT. After declining beforehand (-0.49 sp/year; CI -0.64 to-0.34), the RHS stabilized under ERT.ConclusionIn adult patients with Pompe disease, ERT positively affects quality of life and participation in daily life. Our results reinforce previous findings regarding the effect of ERT on muscle strength, pulmonary function and survival.

BackgroundPompe disease is a rare lysosomal storage disorder characterized by muscle weakness and wasting. The majority of adult patients have slowly progressive disease, which gradually impairs mobility and respiratory function and may lead to wheelchair and ventilator dependency. It is as yet unknown to what extent the disease reduces the life span of these patients. Our objective was to determine the survival of adults with Pompe disease not receiving ERT and to identify prognostic factors associated with survival.MethodsData of 268 patients were collected in a prospective international observational study conducted between 2002 and 2009. Survival analyses from time of diagnosis and from time of study entry were performed using Kaplan-Meier curves and Cox-proportional-hazards regression.ResultsMedian age at study entry was 48 years (range 19-79 years). Median survival after diagnosis was 27 years, while median age at diagnosis was 38 years. During follow-up, twenty-three patients died prior to ERT, with a median age at death of 55 (range 23-77 years). Use of wheelchair and/or respiratory support and patients' score on the Rotterdam Handicap Scale (RHS) were identified as prognostic factors for survival. Five-year survival for patients without a wheelchair or respiratory support was 95% compared to 74% in patients who were wheelchair-bound and used respiratory support. In a Dutch subgroup of 99 patients, we compared the observed number of deaths to the expected number of deaths in the age- and sex-matched general population. During a median follow-up of 2.3 years, the number of deaths among the Dutch Pompe patients was higher than the expected number of deaths in the general population.ConclusionOur study shows for the first time that untreated adults with Pompe disease have a higher mortality than the general population and that their levels of disability and handicap/participation are the most important factors associated with mortality. These results may be of relevance when addressing the effect of ERT or other potential treatment options on survival.

BackgroundPompe disease is a rare metabolic myopathy for which disease-specific enzyme replacement therapy (ERT) has been available since 2006. ERT has shown efficacy concerning muscle strength and pulmonary function in adult patients. However, no data on the effect of ERT on the survival of adult patients are currently available. The aim of this study was to assess the effect of ERT on survival in adult patients with Pompe disease.MethodsData were collected as part of an international observational study conducted between 2002 and 2011, in which patients were followed on an annual basis. Time-dependent Cox’s proportional hazards models were used for univariable and multivariable analyses.ResultsOverall, 283 adult patients with a median age of 48 years (range, 19 to 81 years) were included in the study. Seventy-two percent of patients started ERT at some time during follow-up, and 28% never received ERT. During follow-up (median, 6 years; range, 0.04 to 9 years), 46 patients died, 28 (61%) of whom had never received ERT. After adjustment for age, sex, country of residence, and disease severity (based on wheelchair and ventilator use), ERT was positively associated with survival (hazard ratio, 0.41; 95% CI, 0.19 to 0.87).ConclusionThis prospective study was the first to demonstrate the positive effect of ERT on survival in adults with Pompe disease. Given the relatively recent registration of ERT for Pompe disease, these findings further support its beneficial impact in adult patients.

No abstract

A cross-sectional survey" (Güngör et al., Mol Genet Metab. 2013; (109):371-376) and would like to present some additional data from a similar study we were involved in. A group of 25 patients from the United Kingdom (UK) were surveyed with the long form of the Brief Pain Inventory (BPI). This questionnaire asks patients to score pain within the previous 7 days, instead of the last 24 h assessed in the more commonly used short-form BPI applied in our earlier paper. Eighty-eight percent of UK patients reported pain in the last week, a considerably higher proportion than the 45% reporting current pain in our earlier paper (Table 1). The pain severity scores (PSS) (3.9 (0.5-7.5) vs 3.1 (0.75-8.0) in Güngör et al.) and the median pain interference scores (PIS) (3.9 (0-7.5) vs 3.3 (0-8.4) in Güngör et al.) were only slightly higher. The UK group did not differ in their demographic data from the patients in our earlier paper. The sites (shoulder girdle 76%, hip girdle 52%) and type of pain (dull/pressing 76%, exhausting 68%, unbearable 60%, tender 52%) were consistent with Güngör et al.. Pain mostly affected the limb girdle area, which is known to be one of the areas most affected by muscle weakness in this disease. Fifteen patients (60%) received treatment for pain. The short-form BPI scores pain within the last 24 h to minimize recall bias, which has been shown to inflate the PSS and PIS scores. The present data suggest that, in addition to a large proportion of patients having current pain, an even larger group suffers from pain in daily life. These findings again emphasize the importance of pain in the long-term treatment of patients with Pompe disease. The authors thank Allan Muir, the chairman of the UK section of the International Pompe Association and all the patients who participated.