ArticleJournal of genetic counseling2013
Receiving enzyme replacement therapy for a lysosomal storage disorder: a preliminary exploration of the experiences of young patients and their families.
Article in Journal of genetic counseling, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 2 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
14 citing papers in PubMed, 2 syntheses or guidelines pooled it, 25 citations in OpenAlex.
- 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
- The humanistic burden of Pompe disease: are there still unmet needs? A systematic review.BMC neurology · 2017Pooled it
- An international observational study on transition of care from paediatric to adult services for patients with mucopolysaccharidosis II.BMC health services research · 2026Observational
- Caregiver Reports of Neurodevelopmental Functions in Pediatric Lysosomal Storage Disorders: A Scoping Review.Journal of inherited metabolic disease · 2026Article
- Long-term safety outcomes and patient preferences for home-based intravenous enzyme replacement therapy (ERT) in Pompe disease and Mucopolysaccharidosis Type I (MPS-I): final results of two-year observation.Orphanet journal of rare diseases · 2025Observational
- Living with Pompe disease: results from a qualitative interview study with children and adolescents and their caregivers.Orphanet journal of rare diseases · 2024Article
- Measuring health related quality of life (HRQoL) in Lysosomal Storage Disorders (LSDs): a rapid scoping review of available tools and domains.Orphanet journal of rare diseases · 2024Article
- Safety outcomes and patients' preferences for home-based intravenous enzyme replacement therapy (ERT) in pompe disease and mucopolysaccharidosis type I (MPS I) disorder: COVID-19 and beyond.Orphanet journal of rare diseases · 2023Article
- Qualitative analysis of patient interviews on the burden of neuronopathic Gaucher disease in Japan.Orphanet journal of rare diseases · 2022Article
- Fetal therapies and trials for lysosomal storage diseases: a survey of attitudes of parents and patients.Orphanet journal of rare diseases · 2022Article
- Development and validation of Gaucher disease type 1 (GD1)-specific patient-reported outcome measures (PROMs) for clinical monitoring and for clinical trials.Orphanet journal of rare diseases · 2022Article
- Enzyme replacement therapy with alglucosidase alfa in Pompe disease: Clinical experience with rate escalation.Molecular genetics and metabolism · 2018Article
- The European Gaucher Alliance: a survey of member patient organisations' activities, healthcare environments and concerns.Orphanet journal of rare diseases · 2014Article
- Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome)--10-year follow-up of patients who previously participated in an MPS VI Survey Study.American journal of medical genetics. Part A · 2014Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Medical intervention for lysosomal storage disorders becomes part of life, shaping the reality of the condition for affected individuals and families. Enzyme replacement therapy (ERT) is available to treat some lysosomal storage disorders. ERT is costly and time consuming, requiring frequent hospital visits to receive intravenous infusions. This qualitative study sought to explore the impact of receiving ERT for a lysosomal storage disorder on the health related quality of life (HRQoL) of young patients and their families. Fifteen semi-structured interviews were conducted with young people and parents and siblings of young people accessing ERT for Pompe disease, Gaucher disease or mucopolysaccharidosis types I or II living in Victoria, Australia. Interviews were transcribed then analyzed thematically. The biopsychosocial model assisted in interpreting themes. Findings revealed positive attitudes towards ERT, with noticed improvements in physical and psychosocial well-being. Participants prioritised intervention over other activities and provided suggestions for improving current service delivery. Communication with family members and professionals was deemed important, especially in respect to information provision. Participants described challenges associated with living with a lysosomal storage disorder and receiving ERT and coping strategies, such as positive thinking and ways to manage uncertainty. These findings provide valuable insights into the impact of living with a chronic genetic condition and receiving intensive treatment on HRQoL.
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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.