ArticleJIMD reports2014
Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of Age.
Article in JIMD reports, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 3 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
25 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Intravenous Idursulfase for the Treatment of Mucopolysaccharidosis Type II: A Systematic Literature Review.International journal of molecular sciences · 2024Pooled 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
- Treatment of mucopolysaccharidosis type II (Hunter syndrome): results from a systematic evidence review.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Pooled it
- Evaluation of early treatment with intravenous idursulfase and intrathecal idursulfase-IT on cognitive function in siblings with neuronopathic mucopolysaccharidosis II.Journal of inherited metabolic disease · 2025Trial
- Cognitive, medical, and neuroimaging characteristics of attenuated mucopolysaccharidosis type II.Molecular genetics and metabolism · 2015Trial
- Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study.Molecular genetics and metabolismTrial
- Effectiveness of early initiation of idursulfase in infants and very young children with mucopolysaccharidosis II: a retrospective chart review in siblings.Molecular genetics and metabolism reports · 2026Article
- Mucopolysaccharidosis Type II Screening, Diagnosis, and Management: A Literature Review and Practical Recommendations for Newborn Screening Programs and Health Care Providers to Support Families and Improve Outcomes.International journal of neonatal screening · 2026Review
- Intrathecal idursulfase-IT in children younger than 3 years with neuronopathic mucopolysaccharidosis II in a single-arm, open-label, phase 2/3 substudy and extension.JIMD reports · 2026Article
- Evidence and recommendation for mucopolysaccharidosis type II newborn screening in the United States.Genetics in medicine : official journal of the American College of Medical Genetics · 2023Review
- Addition of MPS-II to the Recommended Uniform Screening Panel in the United States.International journal of neonatal screening · 2022Article
- Evaluation of the long-term treatment effects of intravenous idursulfase in patients with mucopolysaccharidosis II (MPS II) using statistical modeling: data from the Hunter Outcome Survey (HOS).Orphanet journal of rare diseases · 2021Article
- Therapy-type related long-term outcomes in mucopolysaccaridosis type II (Hunter syndrome) - Case series.Molecular genetics and metabolism reports · 2021Article
- Newborn Screening for Mucopolysaccharidosis Type II in Illinois: An Update.International journal of neonatal screening · 2020Article
- Characterization of Fluid Biomarkers Reveals Lysosome Dysfunction and Neurodegeneration in Neuronopathic MPS II Patients.International journal of molecular sciences · 2020Article
- Validation of Liquid Chromatography-Tandem Mass Spectrometry-Based 5-Plex Assay for Mucopolysaccharidoses.International journal of molecular sciences · 2020Article
- The nature and impact of neurobehavioral symptoms in neuronopathic Hunter syndrome.Molecular genetics and metabolism reports · 2020Article
- Diagnosis and follow-up of patients with Hunter syndrome in Spain: A Delphi consensus.Medicine · 2018Observational
- Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: A 7 years follow-up.Molecular genetics and metabolism reports · 2017Article
- Development of idursulfase therapy for mucopolysaccharidosis type II (Hunter syndrome): the past, the present and the future.Drug design, development and therapy · 2017Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mucopolysaccharidosis (MPS) II, or Hunter syndrome, is a lysosomal storage disease characterized by multi-systemic involvement and a progressive clinical course. Enzyme replacement therapy with idursulfase has been approved in more than 50 countries worldwide; however, safety and efficacy data from clinical studies are currently only available for patients 1.4 years of age and older. Sibling case studies of infants with MPS I, II, and VI who initiated ERT in the first weeks or months of life have reported no new safety concerns and a more favorable clinical course for the sibling treated in infancy than for the later-treated sibling. Here we describe our experiences with a case series of eight MPS II patients for whom idursulfase treatment was initiated at under 1 year of age. The majority of the patients were diagnosed because of a family history of disease. All of the infants displayed abnormalities consistent with MPS II at diagnosis. The youngest age at treatment start was 10 days and the oldest was 6.5 months, with duration of treatment varying between 6 weeks and 5.5 years. No new safety concerns were observed, and none of the patients experienced an infusion-related reaction. All of the patients treated for more than 6 weeks showed improvements and/or stabilization of some somatic manifestations while on treatment. In some cases, caregivers made comparisons with other affected family members and reported that the early-treated patients experienced a less severe clinical course, although a lack of medical records for many family members precluded a rigorous comparison.
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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.