ArticleNeurology2023
Neurofilament Light and Its Association With CNS Involvement in Patients With Classic Infantile Pompe Disease.
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Article in Neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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12citing papers in PubMed, 1 pooled it
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12 citing papers in PubMed, 1 synthesis or guideline pooled it, 20 citations in OpenAlex.
- Central nervous system histopathological findings in classic infantile Pompe disease: a systematic review with clinical relevance.Journal of neurology · 2026Pooled it
- Epilepsy Is Part of the CNS Phenotype in Classic Infantile Pompe Disease.Neurology. Genetics · 2026Article
- A roadmap for a patient-centred approach to Pompe disease management.Journal of neurology · 2026Review
- Can Alpha-Glucosidase Activity in Plasma or Leukocytes Serve as a Biomarker for Future Gene Therapy in Classic Infantile Pompe Disease?BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy · 2026Article
- Plasma glial fibrillary acidic protein (GFAP) is a biomarker for central nervous system involvement in infantile-onset Pompe disease.EBioMedicine · 2026Article
- Novel transferrin receptor-mediated enzyme replacement therapy efficiently treats myogenic and neurogenic aspects of Pompe disease in mice.Molecular therapy. Methods & clinical development · 2025Article
- Results of orthodontic procedure in a patient with classic infantile Pompe disease.Italian journal of pediatrics · 2025Article
- Association of Alzheimer's disease biomarkers with low premorbid intellectual functioning in a multi-ethnic community-dwelling cohort: A cross-sectional study of HABS-HD.Journal of Alzheimer's disease : JAD · 2025Article
- Expanding therapeutic options for Pompe disease: a new small molecule inhibitor of glycogen synthase 1 (GYS1) shows preclinical promise in Pompe disease.Annals of translational medicine · 2024Article
- Health-Related Quality of Life and Fatigue in Children with Pompe Disease.Journal of pediatrics. Clinical practice · 2024Article
- The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).Orphanet journal of rare diseases · 2024Review
- Brain glycogen build-up measured by magnetic resonance spectroscopy in classic infantile Pompe disease.Brain communications · 2024Article
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Authors and funding
9 authors at 3 institutions in 2 countries.
Maarten J MackenbachFrom the Center for Lysosomal and Metabolic Diseases (M.J.M., J.J.A.v.d.D., A.T.v.d.P., J.M.P.v.d.H.), Department of Paediatrics, Erasmus University Medical Center, Rotterdam; Neurochemistry laboratory (E.A.J.W., C.T.), Department of Clinical Chemistry, Amsterdam Neuroscience, Amsterdam University Medical Centres, VU University, the Netherlands; Departments of Biomedizin and Neurology (E.A.J.W.), MS Center and Research Center for Clinical Neuroimmunology and Neuroscience (RC2NB), University Hospital Basel and University of Basel, Switzerland; Center for Lysosomal and Metabolic Diseases (N.A.M.E.v.d.B.), Department of Neurology, Erasmus University Medical Center, Rotterdam, the Netherlands; John Walton Muscular Dystrophy Research Centre (J.D.-M.), Newcastle University, United Kingdom; Neuromuscular Disorders Laboratory (J.D.-M.), Institut de recerca de l'hospital de la Santa Creu I Sant Pau, Barcelona; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M.), Madrid, Spain; and Department of Biostatistics & Department of Epidemiology (D.R.), Erasmus University Medical Center, Rotterdam, the Netherlands.
Eline A J WillemseFrom the Center for Lysosomal and Metabolic Diseases (M.J.M., J.J.A.v.d.D., A.T.v.d.P., J.M.P.v.d.H.), Department of Paediatrics, Erasmus University Medical Center, Rotterdam; Neurochemistry laboratory (E.A.J.W., C.T.), Department of Clinical Chemistry, Amsterdam Neuroscience, Amsterdam University Medical Centres, VU University, the Netherlands; Departments of Biomedizin and Neurology (E.A.J.W.), MS Center and Research Center for Clinical Neuroimmunology and Neuroscience (RC2NB), University Hospital Basel and University of Basel, Switzerland; Center for Lysosomal and Metabolic Diseases (N.A.M.E.v.d.B.), Department of Neurology, Erasmus University Medical Center, Rotterdam, the Netherlands; John Walton Muscular Dystrophy Research Centre (J.D.-M.), Newcastle University, United Kingdom; Neuromuscular Disorders Laboratory (J.D.-M.), Institut de recerca de l'hospital de la Santa Creu I Sant Pau, Barcelona; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M.), Madrid, Spain; and Department of Biostatistics & Department of Epidemiology (D.R.), Erasmus University Medical Center, Rotterdam, the Netherlands.ORCID 0000-0001-9140-4243
Jan J A van den DorpelFrom the Center for Lysosomal and Metabolic Diseases (M.J.M., J.J.A.v.d.D., A.T.v.d.P., J.M.P.v.d.H.), Department of Paediatrics, Erasmus University Medical Center, Rotterdam; Neurochemistry laboratory (E.A.J.W., C.T.), Department of Clinical Chemistry, Amsterdam Neuroscience, Amsterdam University Medical Centres, VU University, the Netherlands; Departments of Biomedizin and Neurology (E.A.J.W.), MS Center and Research Center for Clinical Neuroimmunology and Neuroscience (RC2NB), University Hospital Basel and University of Basel, Switzerland; Center for Lysosomal and Metabolic Diseases (N.A.M.E.v.d.B.), Department of Neurology, Erasmus University Medical Center, Rotterdam, the Netherlands; John Walton Muscular Dystrophy Research Centre (J.D.-M.), Newcastle University, United Kingdom; Neuromuscular Disorders Laboratory (J.D.-M.), Institut de recerca de l'hospital de la Santa Creu I Sant Pau, Barcelona; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M.), Madrid, Spain; and Department of Biostatistics & Department of Epidemiology (D.R.), Erasmus University Medical Center, Rotterdam, the Netherlands.ORCID 0000-0003-0948-7313
Nadine A M E van der BeekFrom the Center for Lysosomal and Metabolic Diseases (M.J.M., J.J.A.v.d.D., A.T.v.d.P., J.M.P.v.d.H.), Department of Paediatrics, Erasmus University Medical Center, Rotterdam; Neurochemistry laboratory (E.A.J.W., C.T.), Department of Clinical Chemistry, Amsterdam Neuroscience, Amsterdam University Medical Centres, VU University, the Netherlands; Departments of Biomedizin and Neurology (E.A.J.W.), MS Center and Research Center for Clinical Neuroimmunology and Neuroscience (RC2NB), University Hospital Basel and University of Basel, Switzerland; Center for Lysosomal and Metabolic Diseases (N.A.M.E.v.d.B.), Department of Neurology, Erasmus University Medical Center, Rotterdam, the Netherlands; John Walton Muscular Dystrophy Research Centre (J.D.-M.), Newcastle University, United Kingdom; Neuromuscular Disorders Laboratory (J.D.-M.), Institut de recerca de l'hospital de la Santa Creu I Sant Pau, Barcelona; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M.), Madrid, Spain; and Department of Biostatistics & Department of Epidemiology (D.R.), Erasmus University Medical Center, Rotterdam, the Netherlands.ORCID 0000-0001-9161-3301
Jordi Díaz-ManeraFrom the Center for Lysosomal and Metabolic Diseases (M.J.M., J.J.A.v.d.D., A.T.v.d.P., J.M.P.v.d.H.), Department of Paediatrics, Erasmus University Medical Center, Rotterdam; Neurochemistry laboratory (E.A.J.W., C.T.), Department of Clinical Chemistry, Amsterdam Neuroscience, Amsterdam University Medical Centres, VU University, the Netherlands; Departments of Biomedizin and Neurology (E.A.J.W.), MS Center and Research Center for Clinical Neuroimmunology and Neuroscience (RC2NB), University Hospital Basel and University of Basel, Switzerland; Center for Lysosomal and Metabolic Diseases (N.A.M.E.v.d.B.), Department of Neurology, Erasmus University Medical Center, Rotterdam, the Netherlands; John Walton Muscular Dystrophy Research Centre (J.D.-M.), Newcastle University, United Kingdom; Neuromuscular Disorders Laboratory (J.D.-M.), Institut de recerca de l'hospital de la Santa Creu I Sant Pau, Barcelona; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M.), Madrid, Spain; and Department of Biostatistics & Department of Epidemiology (D.R.), Erasmus University Medical Center, Rotterdam, the Netherlands.
Dimitris RizopoulosFrom the Center for Lysosomal and Metabolic Diseases (M.J.M., J.J.A.v.d.D., A.T.v.d.P., J.M.P.v.d.H.), Department of Paediatrics, Erasmus University Medical Center, Rotterdam; Neurochemistry laboratory (E.A.J.W., C.T.), Department of Clinical Chemistry, Amsterdam Neuroscience, Amsterdam University Medical Centres, VU University, the Netherlands; Departments of Biomedizin and Neurology (E.A.J.W.), MS Center and Research Center for Clinical Neuroimmunology and Neuroscience (RC2NB), University Hospital Basel and University of Basel, Switzerland; Center for Lysosomal and Metabolic Diseases (N.A.M.E.v.d.B.), Department of Neurology, Erasmus University Medical Center, Rotterdam, the Netherlands; John Walton Muscular Dystrophy Research Centre (J.D.-M.), Newcastle University, United Kingdom; Neuromuscular Disorders Laboratory (J.D.-M.), Institut de recerca de l'hospital de la Santa Creu I Sant Pau, Barcelona; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M.), Madrid, Spain; and Department of Biostatistics & Department of Epidemiology (D.R.), Erasmus University Medical Center, Rotterdam, the Netherlands.
Charlotte TeunissenFrom the Center for Lysosomal and Metabolic Diseases (M.J.M., J.J.A.v.d.D., A.T.v.d.P., J.M.P.v.d.H.), Department of Paediatrics, Erasmus University Medical Center, Rotterdam; Neurochemistry laboratory (E.A.J.W., C.T.), Department of Clinical Chemistry, Amsterdam Neuroscience, Amsterdam University Medical Centres, VU University, the Netherlands; Departments of Biomedizin and Neurology (E.A.J.W.), MS Center and Research Center for Clinical Neuroimmunology and Neuroscience (RC2NB), University Hospital Basel and University of Basel, Switzerland; Center for Lysosomal and Metabolic Diseases (N.A.M.E.v.d.B.), Department of Neurology, Erasmus University Medical Center, Rotterdam, the Netherlands; John Walton Muscular Dystrophy Research Centre (J.D.-M.), Newcastle University, United Kingdom; Neuromuscular Disorders Laboratory (J.D.-M.), Institut de recerca de l'hospital de la Santa Creu I Sant Pau, Barcelona; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M.), Madrid, Spain; and Department of Biostatistics & Department of Epidemiology (D.R.), Erasmus University Medical Center, Rotterdam, the Netherlands.ORCID 0000-0002-4061-0837
Ans T van der PloegFrom the Center for Lysosomal and Metabolic Diseases (M.J.M., J.J.A.v.d.D., A.T.v.d.P., J.M.P.v.d.H.), Department of Paediatrics, Erasmus University Medical Center, Rotterdam; Neurochemistry laboratory (E.A.J.W., C.T.), Department of Clinical Chemistry, Amsterdam Neuroscience, Amsterdam University Medical Centres, VU University, the Netherlands; Departments of Biomedizin and Neurology (E.A.J.W.), MS Center and Research Center for Clinical Neuroimmunology and Neuroscience (RC2NB), University Hospital Basel and University of Basel, Switzerland; Center for Lysosomal and Metabolic Diseases (N.A.M.E.v.d.B.), Department of Neurology, Erasmus University Medical Center, Rotterdam, the Netherlands; John Walton Muscular Dystrophy Research Centre (J.D.-M.), Newcastle University, United Kingdom; Neuromuscular Disorders Laboratory (J.D.-M.), Institut de recerca de l'hospital de la Santa Creu I Sant Pau, Barcelona; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M.), Madrid, Spain; and Department of Biostatistics & Department of Epidemiology (D.R.), Erasmus University Medical Center, Rotterdam, the Netherlands.
Johanna M P van den HoutFrom the Center for Lysosomal and Metabolic Diseases (M.J.M., J.J.A.v.d.D., A.T.v.d.P., J.M.P.v.d.H.), Department of Paediatrics, Erasmus University Medical Center, Rotterdam; Neurochemistry laboratory (E.A.J.W., C.T.), Department of Clinical Chemistry, Amsterdam Neuroscience, Amsterdam University Medical Centres, VU University, the Netherlands; Departments of Biomedizin and Neurology (E.A.J.W.), MS Center and Research Center for Clinical Neuroimmunology and Neuroscience (RC2NB), University Hospital Basel and University of Basel, Switzerland; Center for Lysosomal and Metabolic Diseases (N.A.M.E.v.d.B.), Department of Neurology, Erasmus University Medical Center, Rotterdam, the Netherlands; John Walton Muscular Dystrophy Research Centre (J.D.-M.), Newcastle University, United Kingdom; Neuromuscular Disorders Laboratory (J.D.-M.), Institut de recerca de l'hospital de la Santa Creu I Sant Pau, Barcelona; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER) (J.D.-M.), Madrid, Spain; and Department of Biostatistics & Department of Epidemiology (D.R.), Erasmus University Medical Center, Rotterdam, the Netherlands. j.vandenhout@erasmusmc.nl.ORCID 0000-0001-5150-0767
Amsterdam UMC Location Vrije Universiteit Amsterdam · NLAmsterdam Neuroscience · NLHospital de Sant Pau · ES
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND AND
objectivesEnzyme replacement therapy (ERT) has substantially improved the outcome of classic infantile Pompe disease, an inheritable muscle disease previously fatal at infancy. However, under treatment, patients develop white matter abnormalities and neurocognitive problems. Therefore, upcoming therapies also target the brain. Currently, biomarkers reflecting CNS involvement are lacking. We aimed to study the association of neurofilament light (NfL) and CNS involvement.
methodsTo investigate the potential of NfL, we analyzed serum samples of patients with classic infantile Pompe disease who were treated with ERT. The samples were collected at ages of <1, 5, and 10 years, as well as around MRI scans. We compared the outcomes with levels in age- and sex-matched peers. Control samples were originally collected as part of routine blood work in children who underwent small surgeries and stored in the biobank of the Erasmus MC/Sophia Children's Hospital.
resultsWe analyzed 74 serum samples of 17 patients collected at ages ranging from 22 days to 21.2 years (1-8 samples per patient) and compared these with outcomes of 71 matched peers. In the first year of age, NfL levels in patients and controls were similar (10.3 vs 11.0 pg/mL), but mixed linear model analysis showed a yearly increase of NfL of 6.0% in patients, compared with a decrease of 8.8% in controls ( DISCUSSION: 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 disease.
Indexed as
Glycogen Storage Disease Type IIBiomarkersBrainChildCognitionHumansIntermediate FilamentsNeurofilament ProteinsBiomarkersNeurofilament Proteins
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