ArticleMolecular genetics and metabolism2018
Neuroimaging findings in infantile Pompe patients treated with enzyme replacement therapy.
Article in Molecular genetics and metabolism, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01665326 (Determination of Cross-Reactive Immunological Material), which is not on this map. Cited by 35 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Determination of Cross-Reactive Immunological Material (CRIM) Status and Longitudinal Follow-up of Individuals With Pompe Disease
Who cites it
35 citing papers in PubMed, 1 synthesis or guideline pooled it, 61 citations in OpenAlex.
- Central nervous system histopathological findings in classic infantile Pompe disease: a systematic review with clinical relevance.Journal of neurology · 2026Pooled it
- Safety of Intradiaphragmatic Delivery of Adeno-Associated Virus-Mediated Alpha-Glucosidase (rAAV1-CMV-hGAA) Gene Therapy in Children Affected by Pompe Disease.Human gene therapy. Clinical development · 2017Trial
- GAA engineered to improve cellular uptake enhances correction in a preclinical hematopoietic stem cell gene therapy model of Pompe disease.Molecular therapy. Advances · 2026Article
- Novel promoters drive therapeutic transgene expression and evade transgene-specific immune responses in a mouse model of Pompe disease.Molecular genetics and metabolism · 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
- Neurological glycogen storage diseases and emerging therapeutics.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2024Review
- Clinical and neuroimaging review of monogenic cerebral small vessel disease from the prenatal to adolescent developmental stage.Japanese journal of radiology · 2024Review
- Severe CNS involvement in a subset of long-term treated children with infantile-onset Pompe disease.Molecular genetics and metabolism · 2024Article
- Long-Term Outcome of Infantile Onset Pompe Disease Patients Treated with Enzyme Replacement Therapy - Data from a German-Austrian Cohort.Journal of neuromuscular diseases · 2024Article
- Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants.Orphanet journal of rare diseases · 2023Article
- [Research progress of nervous system damage in Pompe disease].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2023Review
- Diffusion tensor imaging of the brain in Pompe disease.Journal of neurology · 2023Article
- 1,6-Journal of the American Chemical Society · 2022Article
- Is the brain involved in patients with late-onset Pompe disease?Journal of inherited metabolic disease · 2022Article
- Small fiber involvement is independent from clinical pain in late-onset Pompe disease.Orphanet journal of rare diseases · 2022Article
- Carnitine is a pharmacological allosteric chaperone of the human lysosomalJournal of enzyme inhibition and medicinal chemistry · 2021Article
- Assessment of Dysphonia in Children with Pompe Disease Using Auditory-Perceptual and Acoustic/Physiologic Methods.Journal of clinical medicine · 2021Article
- Article
- Pompe Disease: New Developments in an Old Lysosomal Storage Disorder.Biomolecules · 2020Review
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundRecombinant human acid α-glucosidase (rhGAA) enzyme replacement therapy (ERT) has prolonged survival in infantile Pompe disease (IPD), but has unmasked central nervous system (CNS) changes.
methodsBrain imaging, consisting of computed tomography (CT) and/or magnetic resonance imaging (MRI), was performed on 23 patients with IPD (17 CRIM-positive, 6 CRIM-negative) aged 2-38months. Most patients had baseline neuroimaging performed prior to the initiation of ERT. Follow-up neuroimaging was performed in eight.
resultsSixteen patients (70%) had neuroimaging abnormalities consisting of ventricular enlargement (VE) and/or extra-axial cerebrospinal fluid accumulation (EACSF) at baseline, with delayed myelination in two. Follow-up neuroimaging (n=8) after 6-153months showed marked improvement, with normalization of VE and EACSF in seven patients. Two of three patients imaged after age 10years demonstrated white matter changes, with one noted to have a basilar artery aneurysm.
conclusionsMild abnormalities on brain imaging in untreated or newly treated patients with IPD tend to resolve with time, in conjunction with ERT. However, white matter changes are emerging as seen in Patients 1 and 3 which included abnormal periventricular white matter changes with subtle signal abnormalities in the basal ganglia and minimal, symmetric signal abnormalities involving the deep frontoparietal cerebral white matter, respectively. The role of neuroimaging as part of the clinical evaluation of IPD needs to be considered to assess for white matter changes and cerebral aneurysms.
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