SynthesisOrphanet journal of rare diseases2019
Agreement between results of meta-analyses from case reports and clinical studies, regarding efficacy and safety of idursulfase therapy in patients with mucopolysaccharidosis type II (MPS-II). A new tool for evidence-based medicine in rare diseases.
Synthesis in Orphanet journal of rare diseases, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 8 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.
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Who cites it
16 citing papers in PubMed, 8 syntheses or guidelines pooled it, 25 citations in OpenAlex.
- Biopsy-proven tumefactive demyelinating lesions: a systematic review and meta-analysis.BMC neurology · 2026Pooled it
- The assistive gait devices and their implementation in activities of daily living for patients with neuromuscular disease: A systematic review and meta-analysis.Journal of neuromuscular diseases · 2026Pooled it
- Pembrolizumab in gestational trophoblastic neoplasia: Systematic review and meta-analysis with sub-group analysis of potential prognostic factors.Clinics (Sao Paulo, Brazil) · 2025Pooled it
- Myocarditis and coronavirus disease 2019 vaccination: A systematic review and meta-summary of cases.Biomolecules & biomedicine · 2023Pooled it
- Clinical characteristics, management, and outcomes of pulmonary valve myxoma: systematic review of published case reports.World journal of surgical oncology · 2023Pooled it
- Pooled it
- The Value of Case Reports in Systematic Reviews from Rare Diseases. The Example of Enzyme Replacement Therapy (ERT) in Patients with Mucopolysaccharidosis Type II (MPS-II).International journal of environmental research and public health · 2020Pooled it
- Severity and mortality of severe Plasmodium ovale infection: A systematic review and meta-analysis.PloS one · 2020Pooled it
- Genotype-Phenotype Correlations and Shifting Diagnosis Age in Turkish Mucopolysaccharidosis Type II Patients: A Multicenter Retrospective Study.Diagnostics (Basel, Switzerland) · 2025Article
- THE VALUE OF N-OF-1 DATA IN ZOOLOGICAL MEDICINE: A METHODOLOGICAL REVIEW.Journal of zoo and wildlife medicine : official publication of the American Association of Zoo Veterinarians · 2023Review
- Therapy-type related long-term outcomes in mucopolysaccaridosis type II (Hunter syndrome) - Case series.Molecular genetics and metabolism reports · 2021Article
- The Impact of Excluding Nonrandomized Studies From Systematic Reviews in Rare Diseases: "The Example of Meta-Analyses Evaluating the Efficacy and Safety of Enzyme Replacement Therapy in Patients With Mucopolysaccharidosis".Frontiers in molecular biosciences · 2021Review
- Inclusion of non-inferiority analysis in superiority-based clinical trials with single-arm, two-stage Simon's design.Contemporary clinical trials communications · 2020Article
- Effects of iron chelation therapy on the clinical course of aceruloplasminemia: an analysis of aggregated case reports.Orphanet journal of rare diseases · 2020Article
- Identifying main finding sentences in clinical case reports.Database : the journal of biological databases and curation · 2020Article
- Comprehensive overview of IRVAN syndrome: a structured review of Case Reports and Case Series.Therapeutic advances in ophthalmologyReview
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundA preliminary exploratory study shows solid agreement between the results of case reports and clinical study meta-analyses in mucopolysaccharidosis Type I (MPS-I) adult patients. The aim of the present study is to confirm previous results in another patient population, suffering from mucopolysaccharidosis Type II (MPS-II).
methodsA systematic review and meta-analysis of case reports published by April 2018 was conducted for MPS-II patients treated with enzyme replacement therapy (ERT). The study is reported in accordance with PRISMA and MOOSE guidelines (PROSPERO database code CRD42018093408). The assessed population and outcomes were the same as previously analyzed in a meta-analysis of MPS-II clinical studies. The primary endpoint was the percent of clinical cases showing improvement in efficacy outcome, or no harm in safety outcome after ERT initiation. A restrictive procedure to aggregate case reports, by selecting standardized and well-defined outcomes, was proposed. Different sensitivity analyses were able to evaluate the robustness of results.
resultsEvery outcome classified as "acceptable evidence group" in our case report meta-analysis had been graded as "moderate strength of evidence" in the aforementioned meta-analysis of clinical studies. Sensitivity, specificity, and positive-negative predictive values for results of both meta-analyses reached 100%, and were deemed equivalent.
conclusionsAggregating case reports quantitatively, rather than analyzing them qualitatively, may improve conclusions in rare diseases and personalized medicine. Additionally, we propose some methods to evaluate publication bias and heterogeneity of the included studies in a meta-analysis of case reports.
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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.