ArticleExpert opinion on orphan drugs2017
Presentation and Treatments for Mucopolysaccharidosis Type II (MPS II; Hunter Syndrome).
Article in Expert opinion on orphan drugs, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 1 of them a synthesis 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
30 citing papers in PubMed, 1 synthesis or guideline pooled it, 67 citations in OpenAlex.
- Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.International journal of molecular sciences · 2023Pooled it
- Caregiver experiences and observations of intrathecal idursulfase-IT treatment in a phase 2/3 trial in pediatric patients with neuronopathic mucopolysaccharidosis II.Orphanet journal of rare diseases · 2024Trial
- A post hoc analysis of Projected Retained Ability Scores (PRAS) for the longitudinal assessment of cognitive functioning in patients with neuronopathic mucopolysaccharidosis II receiving intrathecal idursulfase-IT.Orphanet journal of rare diseases · 2023Trial
- 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
- An international observational study on transition of care from paediatric to adult services for patients with mucopolysaccharidosis II.BMC health services research · 2026Observational
- Subtle cellular phenotypes inform pathological and benign genetic mutants in the Iduronate-2 sulfatase gene.Human molecular genetics · 2026Article
- Genotype-Phenotype Correlations and Shifting Diagnosis Age in Turkish Mucopolysaccharidosis Type II Patients: A Multicenter Retrospective Study.Diagnostics (Basel, Switzerland) · 2025Article
- Identification of gangliosides and ceramides as biomarkers for mucopolysaccharidosis type II (hunter syndrome) through untargeted lipidomic analysis.Metabolomics : Official journal of the Metabolomic Society · 2025Article
- Prioritisation of head, neck, and respiratory outcomes in mucopolysaccharidosis type II: lessons from a rare disease consensus exercise and comparison of parental and clinical priorities.Orphanet journal of rare diseases · 2025Article
- Rapid genotyping of inversion variants in Mucopolysaccharidosis type II using long-range PCR: A case report.Molecular genetics and metabolism reports · 2024Article
- Design and validation of a GMP stem cell manufacturing protocol for MPSII hematopoietic stem cell gene therapy.Molecular therapy. Methods & clinical development · 2024Article
- Neurodevelopmental status and adaptive behavior of pediatric patients with mucopolysaccharidosis II: a longitudinal observational study.Orphanet journal of rare diseases · 2023Observational
- Long-term experience with idursulfase beta (Hunterase) in two adolescent patients with MPS II: A case series.Molecular genetics and metabolism reports · 2023Article
- 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
- Transferrin receptor-targeting property of pabinafusp alfa facilitates its uptake by various types of human brain-derived cellsFrontiers in drug delivery · 2023Article
- Phenotypic and genetic characteristics of 130 patients with mucopolysaccharidosis type II: A single-center retrospective study in China.Frontiers in genetics · 2023Article
- Glycosaminoglycan signatures in body fluids of mucopolysaccharidosis type II mouse model under long-term enzyme replacement therapy.Journal of molecular medicine (Berlin, Germany) · 2022Article
- Dose-dependent effects of a brain-penetrating iduronate-2-sulfatase on neurobehavioral impairments in mucopolysaccharidosis II mice.Molecular therapy. Methods & clinical development · 2022Article
- A new strategy of desensitization in mucopolysaccharidosis type II disease treated with idursulfase therapy: A case report and review of the literature.Molecular genetics and metabolism reports · 2022Article
- Skewed X-Chromosome Inactivation in a Korean Girl with Severe Mucopolysaccharidosis Type II.Annals of laboratory medicine · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
Abstract
introductionMucopolysaccharidosis Type II (MPS II; Hunter syndrome) is an X- linked lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase (IDS). IDS deficiency leads to primary accumulation of dermatan sulfate (DS) and heparan sulfate (HS). MPS II is both multi-systemic and progressive. Phenotypes are classified as either attenuated or severe (based on absence or presence of central nervous system impairment, respectively). AREAS COVERED: Current treatments available are intravenous enzyme replacement therapy (ERT), hematopoietic stem cell transplantation (HSCT), anti-inflammatory treatment, and palliative care with symptomatic surgeries. Clinical trials are being conducted for intrathecal ERT and gene therapy is under pre-clinical investigation. Treatment approaches differ based on age, clinical severity, prognosis, availability and feasibility of therapy, and health insurance.This review provides a historical account of MPS II treatment as well as treatment development with insights into benefits and/or limitations of each specific treatment. EXPERT OPINION: Conventional ERT and HSCT coupled with surgical intervention and palliative therapy are currently the treatment options available to MPS II patients. Intrathecal ERT and gene therapy are currently under investigation as future therapies. These investigative treatments are critical to address the limitations in treatment of the central nervous system (CNS).
Indexed as
Identifiers
What OpenQuestion holds
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.