ArticleGenetics in medicine : official journal of the American College of Medical Genetics2015
CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. It is linked to trial NCT01665326 (Determination of Cross-Reactive Immunological Material), which is not on this map. Cited by 43 papers, 3 of them syntheses 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
43 citing papers in PubMed, 3 syntheses or guidelines pooled it, 58 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
- Immunogenic implications of translational readthrough modulate the association of F8 nonsense mutations with inhibitors in Hemophilia A.Molecular medicine (Cambridge, Mass.) · 2026Article
- Identification of alterations of immunometabolism associated with Pompe disease.Cellular and molecular life sciences : CMLS · 2026Article
- Enzyme replacement therapy (ERT) combined with transient low-dose methotrexate (TLD-MTX) results in age- and disease-dependent immune profile changes in Infantile- vs. late-onset Pompe disease patients.Frontiers in immunology · 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
- A Real-World Data Analysis of Alglucosidase Alfa in the FDA Adverse Event Reporting System (FAERS) Database.Drugs in R&D · 2025Article
- Optimizing clinical outcomes: The journey of twins with CRIM-negative infantile-onset Pompe disease on high-dose enzyme replacement therapy and immunomodulation.Molecular genetics and metabolism reports · 2024Article
- Enzyme replacement therapy and immunotherapy lead to significant functional improvement in two children with Pompe disease: a case report.Journal of medical case reports · 2024Article
- Advances in Immune Tolerance Induction in Enzyme Replacement Therapy.Paediatric drugs · 2024Review
- The Importance of Early Treatment of Inherited Neuromuscular Conditions.Journal of neuromuscular diseases · 2024Review
- 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
- Glycogen storage diseases.Nature reviews. Disease primers · 2023Review
- Monitoring and Management of Respiratory Function in Pompe Disease: Current Perspectives.Therapeutics and clinical risk management · 2023Review
- Immunogenicity assessment of AAV-based gene therapies: An IQ consortium industry white paper.Molecular therapy. Methods & clinical development · 2022Review
- Lentiviral gene therapy prevents anti-human acid α-glucosidase antibody formation in murine Pompe disease.Molecular therapy. Methods & clinical development · 2022Article
- Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel.Italian journal of pediatrics · 2022Review
- A Multi-Centre Prospective Study of the Efficacy and Safety of Alglucosidase Alfa in Chinese Patients With Infantile-Onset Pompe Disease.Frontiers in pharmacology · 2022Article
- Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
Corrections and comments
- Erratum issuedCORRIGENDUM: CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy.2015 · Rosenburg, Amy S [corrected to Rosenberg, Amy S]
Authors and funding
14 authors at 6 institutions in 4 countries.
Funding
Abstract
purposeEnzyme replacement therapy (ERT) with recombinant human acid α-glucosidase (rhGAA) prolongs survival in infantile Pompe disease (IPD). However, the majority of cross-reactive immunologic material (CRIM)-negative (CN) patients have immune responses with significant clinical decline despite continued ERT. We aimed to characterize immune responses in CN patients with IPD receiving ERT monotherapy.
methodsA chart review identified 20 CN patients with IPD treated with ERT monotherapy for ≥6 months. Patients were stratified by anti-rhGAA antibody titers: high sustained antibody titers (HSAT; ≥51,200) at least twice; low titers (LT; <6,400) throughout treatment; or sustained intermediate titers (SIT; 6,400-25,600).
resultsDespite early initiation of treatment, the majority (85%) of CN patients developed significant antibody titers, most with HSAT associated with invasive ventilation and death. Nearly all patients with HSAT had at least one nonsense GAA mutation, whereas the LT group exclusively carried splice-site or frameshift mutations. Only one patient in the HSAT group is currently alive after successful immune modulation in the entrenched setting.
conclusionImmunological responses are a significant risk in CN IPD; thus induction of immune tolerance in the naive setting should strongly be considered. Further exploration of factors influencing immune responses is required, particularly with the advent of newborn screening for Pompe disease.
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Registered trials
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.