Nadine A. M. E. van der Beek
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View article: Can Alpha-Glucosidase Activity in Plasma or Leukocytes Serve as a Biomarker for Future Gene Therapy in Classic Infantile Pompe Disease?
Can Alpha-Glucosidase Activity in Plasma or Leukocytes Serve as a Biomarker for Future Gene Therapy in Classic Infantile Pompe Disease? Open
We studied alpha-glucosidase activity in plasma and leukocytes after an infusion of 40 mg/kg of recombinant alglucosidase alpha in patients with classic infantile Pompe disease to assess the pharmacokinetics and identify potential surrogat…
View article: Quantification of muscle glycogen distribution in Pompe disease using 7 Tesla <sup>13</sup>C NMR spectroscopy
Quantification of muscle glycogen distribution in Pompe disease using 7 Tesla <sup>13</sup>C NMR spectroscopy Open
Background Late-onset Pompe disease has a characteristic pattern of fat replacement and wasting of especially axial and hamstring muscles. This characteristic pattern of muscle degeneration is still to be explained but could relate to diff…
View article: Enzyme replacement therapies in adults with Pompe disease: from trials to real-world data
Enzyme replacement therapies in adults with Pompe disease: from trials to real-world data Open
Purpose of review To review the clinical trial results and emerging real-world data of two new enzyme replacement therapies (ERTs) for late-onset Pompe disease and to compare these effects in the context of what has been achieved over the …
View article: Defining clinically meaningful thresholds for forced vital capacity in patients with neuromuscular disorders: Lessons learned from the COMET study in Pompe disease
Defining clinically meaningful thresholds for forced vital capacity in patients with neuromuscular disorders: Lessons learned from the COMET study in Pompe disease Open
Background Respiratory impairment in neuromuscular disorders (NMDs) is generally assessed using forced vital capacity (FVC). Any improvement in FVC trajectory will delay ventilatory support; however, the change required for patients to per…
View article: Improving outcome measures in late onset Pompe disease: Modified Rasch‐Built Pompe‐Specific Activity scale
Improving outcome measures in late onset Pompe disease: Modified Rasch‐Built Pompe‐Specific Activity scale Open
Background and purpose The Rasch‐Built Pompe‐Specific Activity (R‐PAct) scale is a patient‐reported outcome measure specifically designed to quantify the effects of Pompe disease on daily life activities, developed for use in Dutch‐ and En…
View article: Start, switch and stop (triple‐S) criteria for enzyme replacement therapy of late‐onset Pompe disease: European Pompe Consortium recommendation update 2024
Start, switch and stop (triple‐S) criteria for enzyme replacement therapy of late‐onset Pompe disease: European Pompe Consortium recommendation update 2024 Open
Background and purpose Two novel enzyme replacement therapies (ERTs), studied in phase 3 trials in late‐onset Pompe patients, reached marketing authorization by the European Medicines Agency in 2022 and 2023. The European Pompe Consortium …
View article: Long term survival in patients with classic infantile Pompe disease reveals a spectrum with progressive brain abnormalities and changes in cognitive functioning
Long term survival in patients with classic infantile Pompe disease reveals a spectrum with progressive brain abnormalities and changes in cognitive functioning Open
The aim of this longitudinal cohort study, is to provide more insight into the pattern of brain abnormalities, and possible consequences for cognitive functioning, in patients with classic infantile Pompe disease. We included 19 classic in…
View article: Establishing how much improvement in lung function and distance walked is clinically important for adult patients with Pompe disease
Establishing how much improvement in lung function and distance walked is clinically important for adult patients with Pompe disease Open
Background and purpose Pompe disease is a rare, inheritable, progressive metabolic myopathy. This study aimed to estimate the minimal clinically important difference (MCID) for an improvement in forced vital capacity in the upright seated …
View article: EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders
EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders Open
Background The EURO-NMD Registry collects data from all neuromuscular patients seen at EURO-NMD's expert centres. In-kind contributions from three patient organisations have ensured that the registry is patient-centred, meaningful, and imp…
View article: Brain glycogen build-up measured by magnetic resonance spectroscopy in classic infantile Pompe disease
Brain glycogen build-up measured by magnetic resonance spectroscopy in classic infantile Pompe disease Open
Classic infantile Pompe disease is caused by abnormal lysosomal glycogen accumulation in multiple tissues, including the brain due to a deficit in acid α-glucosidase. Although treatment with recombinant human acid α-glucosidase has dramati…
View article: Are Anti-rhGAA Antibodies a Determinant of Treatment Outcome in Adults with Late-Onset Pompe Disease? A Systematic Review
Are Anti-rhGAA Antibodies a Determinant of Treatment Outcome in Adults with Late-Onset Pompe Disease? A Systematic Review Open
Background: Pompe disease is a lysosomal storage disease characterised by skeletal and respiratory muscle weakness. Since 2006, enzyme replacement therapy (ERT) with alglucosidase alfa has been available. ERT significantly improves the pro…
View article: Measurement Properties of 2 Novel PROs, the Pompe Disease Symptom Scale and Pompe Disease Impact Scale, in the COMET Study
Measurement Properties of 2 Novel PROs, the Pompe Disease Symptom Scale and Pompe Disease Impact Scale, in the COMET Study Open
ClinicalTrials.gov identifier: NCT02782741.
View article: Neurofilament Light and Its Association With CNS Involvement in Patients With Classic Infantile Pompe Disease
Neurofilament Light and Its Association With CNS Involvement in Patients With Classic Infantile Pompe Disease Open
We found significant differences in NfL levels between patients and controls and a good association between NfL and cognition. NfL deserves further exploration as a biomarker for CNS involvement in patients with classic infantile Pompe dis…
View article: Home-Based Infusion of Alglucosidase Alfa Can Safely be Implemented in Adults with Late-Onset Pompe Disease: Lessons Learned from 18,380 Infusions
Home-Based Infusion of Alglucosidase Alfa Can Safely be Implemented in Adults with Late-Onset Pompe Disease: Lessons Learned from 18,380 Infusions Open
Given the small numbers of IARs that occurred with the home infusions, of which only one was severe, we conclude that alglucosidase alfa can be administered safely in the home situation, provided the appropriate infrastructure is present.
View article: Association between changes in pulmonary function and in patient reported outcomes during enzyme therapy of adult patients with late‐onset Pompe disease
Association between changes in pulmonary function and in patient reported outcomes during enzyme therapy of adult patients with late‐onset Pompe disease Open
Pompe disease is a rare, progressive, and metabolic myopathy. Reduced pulmonary function is one of the main problems seen in adult patients with late‐onset Pompe disease (LOPD). We aimed to explore the association between changes over time…
View article: Diffusion tensor imaging of the brain in Pompe disease
Diffusion tensor imaging of the brain in Pompe disease Open
Enzyme replacement therapy has drastically changed prospects of patients with Pompe disease, a progressive metabolic myopathy. As classic infantile patients survive due to treatment, they exhibit progressive white matter abnormalities, whi…
View article: Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey
Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey Open
Background: Telemedicine (TM) contributes to bridge the gap between healthcare facilities and patients’ homes with neuromuscular disease (NMD) because of mobility issues. However, its deployment is limited due to difficulties evaluating su…
View article: Lysosomal glycogen accumulation in Pompe disease results in disturbed cytoplasmic glycogen metabolism
Lysosomal glycogen accumulation in Pompe disease results in disturbed cytoplasmic glycogen metabolism Open
Pompe disease is an inherited metabolic myopathy caused by deficiency of acid alpha‐glucosidase (GAA), resulting in lysosomal glycogen accumulation. Residual GAA enzyme activity affects disease onset and severity, although other factors, i…
View article: Is the brain involved in patients with late‐onset Pompe disease?
Is the brain involved in patients with late‐onset Pompe disease? Open
Our objective was to investigate brain structure, cerebral vasculature, and cognitive function in a cohort of patients with late‐onset Pompe disease, with particular reference to the differences from those with the classic infantile phenot…