ReviewOrphanet journal of rare diseases2016
Health-related quality of life in mucopolysaccharidosis: looking beyond biomedical issues.
Review in Orphanet journal of rare diseases, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05006222 (Effects of Enzyme Replacement Therapy on Quality of Life, Functional Independence and Aerobic Capacity in Children With Mucopolysaccharidosis), which is not on this map. Cited by 35 papers, 2 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.
Effects of Enzyme Replacement Therapy on Quality of Life, Functional Independence and Aerobic Capacity in Children With Mucopolysaccharidosis
Who cites it
35 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- A systematic review and integrative sequential explanatory narrative synthesis: The psychosocial impact of parenting a child with a lysosomal storage disorder.Journal of inherited metabolic disease · 2022Pooled it
- Assessing the impact of the five senses on quality of life in mucopolysaccharidoses.Orphanet journal of rare diseases · 2020Pooled it
- Impact of regular physiotherapy intervention on the function and quality of life of pediatric patients diagnosed with Mucopolysaccharidosis.Molecular genetics and metabolism reports · 2026Article
- Caregiver Reports of Neurodevelopmental Functions in Pediatric Lysosomal Storage Disorders: A Scoping Review.Journal of inherited metabolic disease · 2026Article
- Harmonizing Perspectives on MPS II Care in Türkiye: A Delphi Study Towards Treatment Management Consensus.Healthcare (Basel, Switzerland) · 2026Article
- Human, economic, and social impact of lysosomal storage diseases.Orphanet journal of rare diseases · 2025Article
- Palliative Care for Children and Adults With Inherited Metabolic Disease in Europe: An Underutilised Service for Supportive Treatment and Care.Journal of inherited metabolic disease · 2025Article
- Health-Related Quality of Life of Individuals with Physical Disabilities in Childhood.Children (Basel, Switzerland) · 2025Article
- Characterization of orthopedic manifestations in patients with mucopolysaccharidosis II using data from 15 years of the Hunter Outcome Survey.JIMD reports · 2024Article
- Predicting Health-Related Quality of Life Among Chinese Residents: Latent Class Analysis Based on Panel Survey Data.Risk management and healthcare policy · 2024Article
- Psychobehavioral factors and family functioning in mucopolysaccharidosis: preliminary studies.Frontiers in public health · 2024Article
- Understanding the challenges, unmet needs, and expectations of mucopolysaccharidoses I, II and VI patients and their caregivers in France: a survey study.Orphanet journal of rare diseases · 2022Article
- Anaesthetic Management in Mucopolysaccharidoses Patients: Clinical Experience in a Tertiary Hospital.Cureus · 2022Article
- Consensus statement on enzyme replacement therapy for mucopolysaccharidosis IVA in Central and South-Eastern European countries.Orphanet journal of rare diseases · 2022Article
- Functioning profiles of individuals with Mucopolysaccharidosis according to the International Classification of Functioning.European journal of physical and rehabilitation medicine · 2022Article
- Pre-operative Considerations in Adult Mucopolysaccharidosis Patients Planned for Cardiac Intervention.Frontiers in cardiovascular medicine · 2022Review
- Non-cardiac Manifestations in Adult Patients With Mucopolysaccharidosis.Frontiers in cardiovascular medicine · 2022Review
- Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): defining and measuring functional impacts in pediatric patients.Orphanet journal of rare diseases · 2021Article
- Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience.Orphanet journal of rare diseases · 2021Article
- Activity of daily living in mucopolysaccharidosis IVA patients: Evaluation of therapeutic efficacy.Molecular genetics & genomic medicine · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The mucopolysaccharidoses (MPS) comprise a heterogeneous family of rare, genetic lysosomal storage disorders that result in severe morbidity and reduced life expectancy. Emerging treatments for several of these disorders have triggered the search for clinically relevant biomarkers and clinical markers associated with treatment efficacy in populations and individuals. However, biomedical measures do not tell the whole story when characterizing a complex chronic disorder such as MPS. Health-related quality of life (HRQoL) tools that utilize patient reported outcomes to address patient parameters such as symptoms (pain, fatigue, psychological health), functioning (activity and limitations), or quality of life, have been used to supplement traditional biomedical endpoints. Many of these HRQoL tools have demonstrated that quality of life is negatively impacted in patients with MPS. There is both the opportunity and need to formally standardize and validate HRQoL tools for the different MPS disorders.
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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.