ArticleJournal of inherited metabolic disease2015
Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease.
Article in Journal of inherited metabolic disease, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 65 papers, 3 of them syntheses that pooled it.
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Who cites it
65 citing papers in PubMed, 3 syntheses or guidelines pooled it, 106 citations in OpenAlex.
- Insights into immunogenicity and therapeutic strategies to mitigate the immune response in infantile-onset Pompe disease: a comprehensive systematic literature review.Frontiers in immunology · 2025Pooled it
- Are Anti-rhGAA Antibodies a Determinant of Treatment Outcome in Adults with Late-Onset Pompe Disease? A Systematic Review.Biomolecules · 2023Pooled it
- Enzyme replacement therapy for infantile-onset Pompe disease.The Cochrane database of systematic reviews · 2017Pooled it
- Home Infusion With Recombinant Human α-Glucosidase in Children With Pompe Disease: The Dutch Experience Over 20 Years Across the Spectrum From Classic Infantile to Late-Onset Phenotypes.BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy · 2026Article
- Stability of alglucosidase alfa in 0.9% sodium chloride for enzyme replacement therapy in patients with Pompe disease: insights from enzyme activity and cellular uptake measurements.European journal of hospital pharmacy : science and practice · 2026Article
- Infantile-onset Pompe disease entering adulthood: Insights from 2 decades of enzyme replacement therapy experience.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Beginning of a new era of synthetic messenger RNA therapeutics: Comprehensive insights on mRNA drug design, development and applications.Experimental biology and medicine (Maywood, N.J.) · 2025Review
- 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
- Base editing rescues acid α-glucosidase function in infantile-onset Pompe disease patient-derived cells.Molecular therapy. Nucleic acids · 2024Article
- Advances in Immune Tolerance Induction in Enzyme Replacement Therapy.Paediatric drugs · 2024Review
- 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
- Tofacitinib to prevent anti-drug antibody formation against LMB-100 immunotoxin in patients with advanced mesothelin-expressing cancers.Frontiers in oncology · 2024Article
- An updated management approach of Pompe disease patients with high-sustained anti-rhGAA IgG antibody titers: experience with bortezomib-based immunomodulation.Frontiers in immunology · 2024Article
- The Importance of Early Treatment of Inherited Neuromuscular Conditions.Journal of neuromuscular diseases · 2024Review
- Home-Based Infusion of Alglucosidase Alfa Can Safely be Implemented in Adults with Late-Onset Pompe Disease: Lessons Learned from 18,380 Infusions.BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy · 2023Article
- Hypertrophic Cardiomyopathy versus Storage Diseases with Myocardial Involvement.International journal of molecular sciences · 2023Review
- 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
- Expert opinion on the diagnostic odyssey and management of late-onset Pompe disease: a neurologist's perspective.Frontiers in neurology · 2023Article
- IGF2-tagging of GAA promotes full correction of murine Pompe disease at a clinically relevant dosage of lentiviral gene therapy.Molecular therapy. Methods & clinical development · 2022Article
- Lentiviral gene therapy prevents anti-human acid α-glucosidase antibody formation in murine Pompe disease.Molecular therapy. Methods & clinical development · 2022Article
5 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundEnzyme-replacement therapy (ERT) in Pompe disease--an inherited metabolic disorder caused by acid α-glucosidase deficiency and characterized in infants by generalized muscle weakness and cardiomyopathy--can be complicated by immune responses. Infants that do not produce any endogenous acid α-glucosidase, so-called CRIM-negative patients, reportedly develop a strong response. We report the clinical outcome of our Dutch infants in relation to their CRIM status and immune response.
methodsEleven patients were genotyped and their CRIM status was determined. Antibody formation and clinical outcome were assessed for a minimum of 4 years.
resultsERT was commenced between 0.1 and 8.3 months of age, and patients were treated from 0.3 to 13.7 years. All patients developed antibodies. Those with a high antibody titer (above 1:31,250) had a poor response. The antibody titers varied substantially between patients and did not strictly correlate with the patients' CRIM status. Patients who started ERT beyond 2 months of age tended to develop higher titers than those who started earlier. All three CRIM-negative patients in our study succumbed by the age of 4 years seemingly unrelated to the height of their antibody titer.
conclusionAntibody formation is a common response to ERT in classic infantile Pompe disease and counteracts the effect of treatment. The counteracting effect seems determined by the antibody:enzyme molecular stoichiometry. The immune response may be minimized by early start of ERT and by immune modulation, as proposed by colleagues. The CRIM-negative status itself seems associated with poor outcome.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.