Pompe disease: Design, methodology, and early findings from the Pompe Registry

Byrne, Barry J.; Kishnani, Priya S.; Case, Laura E.; Merlini, Luciano; Müller‐Felber, Wolfgang; Prasad, Suyash; Ploeg, Ans van der

doi:10.1016/j.ymgme.2011.02.004

Cited by 131 publications

(152 citation statements)

References 45 publications

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“…Monitoring of the pulmonary function is essential in LOPD in order to evaluate the need for mechanical ventilation [4,6,14]. Various pulmonary function tests have been used to assess it, FVC % upright and supine being the most commonly used.…”

Section: Introductionmentioning

confidence: 99%

Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5years

Stępień

Hendriksz

Roberts

et al. 2016

Molecular Genetics and Metabolism

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Pompe disease is an autosomal recessive disease resulting from deficiency of the acid alpha-glucosidase (GAA). The late-onset Pompe Disease (LOPD) patients develop muscular and respiratory complications later in life. We describe a retrospective observational cohort study including 22 patients with LOPD. The cohort was assessed at baseline before Enzyme Replacement Therapy (ERT) with alglucosidase alpha (20 mg/kg biweekly) was com-menced and subsequently relevant information was collected at 2, 4 and 5 years later. The median age of the patients at study entry was 44 years (16-64 years), with median disease duration of 11.5 years (4-31 years). At baseline, 10 patients (45%) could walk without support, 12 (55%) could walk with unilateral or bilateral sup-port including 3/12 were wheelchair bound. Mean predicted FVC % was 55.7 (95% CI 45-66) of predicted normal at baseline and showed no significant change after 5 years (54.6 (95% CI 43-66)), (all p = 0.9815). Mean FVC %supine was 41.8 (95% CI 33.8-49) of predicted normal at baseline and remained significantly unchanged at 5 years (48.4 (95% CI 37-59.6)), (all p = 0.8680). The overnight non-invasive ventilator dependence increased by 18.2% as compared with baseline and requirement of mobility aids increased during this period by 5.2% as compared with the baseline. Mean walking distance at 6 min walk test was 411.5 (95% CI 338-485) at baseline, 266.5 (95% CI 187-346) m at 2 years, 238.6 (95% CI 162-315) m at 4 years and 286.8 (95% CI 203-370) m at 5 years (p = 0.1981; ANOVA was completed only for 14 patients). A gradual decline in FVC% predicted was noted only in four cases and a decline in FVC% supine in two other. Only one patient showed a decline in both pulmonary function tests. In all remaining cases (17/22) respiratory function remains stable. In conclusion overall pulmonary function tests and mobility remained stable for 5 years in majority of patients on ERT. However, in some patients they continued to decline in spite of ERT resulting in increased number of patients requiring ventilation and increase wheel chair dependence at the end of 5 years.

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Section: Introductionmentioning

confidence: 99%

Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5years

Stępień

Hendriksz

Roberts

et al. 2016

Molecular Genetics and Metabolism

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“…The collection of high-quality prospective data has been facilitated through the implementation of registries, contributing greatly to clinical data in a variety of medical specialties. 7,22 In this study, we sought to identify the main surgical RCTs conducted with relevance to the field of neurosurgery since the year 2000. Our objectives were to critically appraise the design and reporting of RCTs in neurosurgery, and to correlate the design of the study (whether explanatory or pragmatic) with its specific objectives to identify the extent of inconsistency.…”

mentioning

confidence: 99%

Randomized controlled trials and neurosurgery: the ideal fit or should alternative methodologies be considered?

Mansouri

Cooper

Shin

et al. 2016

JNS

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(2000)(2001)(2002)(2003)(2004)(2005)(2006)(2007)(2008)(2009)(2010)(2011)(2012)(2013)(2014) was conducted. The medical subject heading (MeSH) terms used in the search included: "neurosurgery" OR "neurosurgical procedure," "brain neoplasms," "infarction" and "decompression," "carotid stenosis," "cerebral hemorrhage," and "spinal fusion." These studies were limited to RCTs, in humans, and in the English language. The Consolidated Standards for Reporting of Trials (CONSORT) and Jadad scales were used to assess the quality of RCT design and reporting. The standardized median times cited (median citations divided by years since publication) were used to assess impact. A pragmatic-explanatory continuum indicator summary-based scale was used to assess the design of the studies as primarily pragmatic or explanatory. results Sixty-one articles were identified, and the following subspecialties were the most common: vascular (23, 37%), followed by functional neurosurgery and neurooncology (both 13, 21%). The following nations were the primary leaders in RCTs: US (25 studies, 41%), Germany (8 studies, 13%), and the United Kingdom (7 studies, 11%). Median sample size was 100 (interquartile range [IQR] 41.5-279). The majority of the studies (40, 66%) had pragmatic objectives. The median number of times cited overall was 69 . The combined median CONSORT score was 36 (IQR 27.5-39). Blinding was most deficiently reported. Other areas with a relatively low quality of reporting were sample size calculation (34.2% of surgical, 38.5% of drug, and 20% of device studies), allocation concealment (28.9% of surgical, 23.1% of drug, and 50% of device studies), and protocol implementation (18.4% of surgical, 23% of drug, and 20% of device studies). The quality of reporting did not correlate with the study impact. All studies had a median Jadad score ≤ 3. Thirty-three pragmatic studies (83%) and 5 explanatory studies (25%) met the design objectives. All pragmatic studies based on drug and device trials met their objectives, while 74% of pragmatic surgical trials met their objectives. coNclusioNs The prevalence of neurosurgical RCTs is low. The quality of RCT design and reporting in neurosurgery is also low. Many study designs are not compatible with stated objectives. Pragmatic studies were more likely to meet design objectives. Given the role of RCTs as one of the highest levels of evidence, it is critical to improve on their methodology and reporting.

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“…O tempo médio desde o aparecimento da primeira sintomatologia até ao diagnóstico é variável sendo em média sete anos. 5,10,11 Os sintomas iniciais podem ser inespecíficos: fadiga generalizada, mialgias e contractura muscular. A forma de apresentação mais comum é o envolvimento proximal dos músculos da cintura pélvica e do tronco com perda da atividade motora grosseira como andar, subir escadas e correr.…”

Section: Revisão Bibliográfica -Diagnóstico Manifestações E Avaliaçãounclassified

Recomendações para o Diagnóstico da Forma Tardia da Doença de Pompe

et al. 2014

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Acta Med Port 2014 Jul-Aug;27(4):525-529 RESUMOIntrodução: A Doença de Pompe é uma miopatia autossómica recessiva progressiva e incapacitante, devida ao défice da enzima lisossómica α-glicosidade-ácida. A sua forma tardia tem uma apresentação heterogénea que mimetiza outras doenças neuromusculares, o que dificulta o diagnóstico. Objectivo: Desenvolver recomendações baseadas em consenso para o diagnóstico da forma tardia da doença de Pompe. Material e Métodos:Revisão bibliográfica e análise de um questionário de opinião aplicado a um grupo de especialistas com experiência no diagnóstico de várias miopatias e doenças de sobrecarga lisossomal. Discussão em reunião de consenso. Recomendações: Doentes com miopatia proximal progressiva, fadiga, cãibras e mialgias devem ser submetidos a uma avaliação complementar com determinação de níveis de creatinina fosfoquinase, electromiograma, espirometria dinâmica e, em casos inconclusivos, biópsia muscular. Nos casos suspeitos ou naqueles em que a biópsia muscular não permita outro diagnóstico deve ser determinada a atividade da enzima lisossómica α-glicosidade-ácida através de teste de gota seca (DBS -dried blood spot). A redução da atividade da enzima lisossómica α-glicosidade-ácida requer a confirmação numa segunda amostra e a sequenciação do gene da enzima lisossómica α-glicosidade-ácida. Palavras-chave: Idade de Início; Consenso; Doença de Armazenamento de Glicogénio tipo II. ABSTRACT Introduction:Pompe disease is a progressive and debilitating autossomal recessive myopathy due to mutations in lysossomal acid-α-glucosidase. Its late-onset form has a heterogeneous presentation mimicking other neuromuscular diseases, leading to diagnostic challenge. Objective: To develop consensus based recommendations for the diagnosis of late-onset Pompe Disease. Material and Methods: Bibliographic review and analysis of an opinion questionnaire applied to a group of specialists with expertise in the diagnosis of several myopathies and lysossomal storage disorders. Discussed in consensus meeting. Recommendations:Patients with a progressive limb-girdle weakness, fatigue, cramps and muscle pain should be evaluated with CK levels, electromyography, dynamic spirometry and muscle biopsy in inconclusive cases. Suspected cases and those in which muscle biopsy could not allow other diagnosis should be screened for lysossomal acid-α-glucosidase deficiency with DBS (dried blood spot). The diagnosis should be confirmed by determination of lysossomal acid-α-glucosidase activity in a second sample and lysossomal acid-α-glucosidase gene sequencing.

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Pompe disease: Design, methodology, and early findings from the Pompe Registry

Cited by 131 publications

References 45 publications

Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5years

Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5years

Randomized controlled trials and neurosurgery: the ideal fit or should alternative methodologies be considered?

Recomendações para o Diagnóstico da Forma Tardia da Doença de Pompe

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