ArticleMolecular genetics and metabolism2015
Activities of daily living in patients with Hunter syndrome: impact of enzyme replacement therapy and hematopoietic stem cell transplantation.
Article in Molecular genetics and metabolism, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 1 of them a synthesis that pooled it.
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Who cites it
34 citing papers in PubMed, 1 synthesis or guideline pooled it, 46 citations in OpenAlex.
- 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
- Caregiver Reports of Neurodevelopmental Functions in Pediatric Lysosomal Storage Disorders: A Scoping Review.Journal of inherited metabolic disease · 2026Article
- Allogeneic hematopoietic stem cell transplantation for mucopolysaccharidosis patients: a single-center experience and assessment of quality of life.Italian journal of pediatrics · 2025Article
- Review
- Hematopoietic stem cell transplantation in children with mucopolysaccharidosis IVA: single center experience.Bone marrow transplantation · 2025Article
- A novel preclinical model of mucopolysaccharidosis type II for developing human hematopoietic stem cell gene therapy.Gene therapy · 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
- Efficacy of early haematopoietic stem cell transplantation versus enzyme replacement therapy on neurological progression in severe Hunter syndrome: Case report of siblings and literature review.Molecular genetics and metabolism reports · 2022Article
- Current and Future Treatment of Mucopolysaccharidosis (MPS) Type II: Is Brain-Targeted Stem Cell Gene Therapy the Solution for This Devastating Disorder?International journal of molecular sciences · 2022Review
- New Indications for Hematopoietic Stem Cell Gene Therapy in Lysosomal Storage Disorders.Frontiers in oncology · 2022Review
- Real world long-term outcomes in patients with mucopolysaccharidosis type II: A retrospective cohort study.Molecular genetics and metabolism reports · 2021Article
- Activity of daily living in mucopolysaccharidosis IVA patients: Evaluation of therapeutic efficacy.Molecular genetics & genomic medicine · 2021Article
- Therapy-type related long-term outcomes in mucopolysaccaridosis type II (Hunter syndrome) - Case series.Molecular genetics and metabolism reports · 2021Article
- Differences in MPS I and MPS II Disease Manifestations.International journal of molecular sciences · 2021Review
- Toileting Abilities Survey as a surrogate outcome measure for cognitive function: Findings from neuronopathic mucopolysaccharidosis II patients treated with idursulfase and intrathecal idursulfase.Molecular genetics and metabolism reports · 2020Article
- Intravenous Enzyme Replacement Therapy in Mucopolysaccharidoses: Clinical Effectiveness and Limitations.International journal of molecular sciences · 2020Review
- Assessment of Activity of Daily Life in Mucopolysaccharidosis Type II Patients with Hematopoietic Stem Cell Transplantation.Diagnostics (Basel, Switzerland) · 2020Article
- Safety Study of Sodium Pentosan Polysulfate for Adult Patients with Mucopolysaccharidosis Type II.Diagnostics (Basel, Switzerland) · 2019Article
- First Report of a Patient with MPS Type VII, Due to Novel Mutations inInternational journal of molecular sciences · 2019Article
- Hematopoietic Stem Cell Transplantation for Mucopolysaccharidoses: Past, Present, and Future.Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation · 2019Review
Corrections and comments
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Authors and funding
14 authors at 7 institutions in 2 countries.
Funding
Abstract
The aim of this study was to assess the activities of daily living (ADL) in patients with Hunter syndrome (mucopolysaccharidosis II; MPS II) using a newly designed ADL questionnaire. We applied the questionnaire to evaluate clinical phenotypes and therapeutic efficacies of enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT). We also explored early signs and symptoms to make early diagnosis feasible. We devised a new ADL questionnaire with three domains: "movement," "movement with cognition," and "cognition." Each domain has four subcategories rated on a 5-point scale based on level of assistance. We also scored signs and symptoms unique to MPS by 12 subcategories (five points per category), providing 60 points in total. The questionnaire was first administered to 138 healthy Japanese controls (0.33-50 years), and successively, to 74 Japanese patients with Hunter syndrome (4-49 years). The patient cohort consisted of 51 severe and 23 attenuated phenotypes; 20 patients treated with HSCT, 23 patients treated early with ERT (≤8 years), 25 patients treated late with ERT (>8 years), and 4 untreated patients. Among 18 severe phenotypic patients treated by HSCT, 10 were designated as early HSCT (≤5years), while 8 were designated as late HSCT (>5years). Scores from patients with severe phenotypes were lower than controls and attenuated phenotypes in all categories. Among patients with severe phenotypes, there was a trend that HSCT provides a higher ADL score than early ERT, and there was a significant difference in ADL scores between late ERT and HSCT groups. Early ERT and early HSCT provided a higher score than late ERT and late HSCT, respectively. In conclusion, we have evaluated the feasibility of a new questionnaire in control population and patients with Hunter syndrome, leading to a novel evaluation method for clinical phenotypes and therapeutic efficacy. Early treatment with HSCT provides a better consequence in ADL of patients.
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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.