ArticleOrphanet journal of rare diseases2022
Understanding the challenges, unmet needs, and expectations of mucopolysaccharidoses I, II and VI patients and their caregivers in France: a survey study.
Article in Orphanet journal of rare diseases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 14 citations in OpenAlex.
- An international observational study on transition of care from paediatric to adult services for patients with mucopolysaccharidosis II.BMC health services research · 2026Observational
- Human, economic, and social impact of lysosomal storage diseases.Orphanet journal of rare diseases · 2025Article
- Pain assessment and treatment in patients with mucopolysaccharidoses: a French multicentric pediatric study.Orphanet journal of rare diseases · 2025Article
- The impact of 22q11.2 deletion syndrome on caregivers: assessing quality of life and burden.Orphanet journal of rare diseases · 2025Article
- Parental perception of treatment options for mucopolysaccharidosis: a survey to bridge the gap for personalized medicine.Orphanet journal of rare diseases · 2025Article
- Review of clinical trials and guidelines for children and youth with mucopolysaccharidosis: outcome selection and measurement.Orphanet journal of rare diseases · 2024Review
- Analysis of caregiver perspectives on patients with mucopolysaccharidosis II treated with pabinafusp alfa: results of qualitative interviews in Japan.Orphanet journal of rare diseases · 2024Article
- Positive Impact of Home ERT for Mucopolysaccharidoses and Pompe Disease: The Lesson Learnt from the COVID-19 Pandemic.Healthcare (Basel, Switzerland) · 2023Article
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Authors and funding
9 authors at 8 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMucopolysaccharidoses (MPS) are a group of inherited lysosomal storage diseases caused by defective enzyme activity involved in the catalysis of glycosaminoglycans. Published data on adult patients with MPS remains scarce. Therefore, the present qualitative survey study was aimed at understanding knowledge of the disease, unmet needs, expectations, care, and overall medical management of adult/adolescent patients with MPS I, II and VI and their caregivers in France.
resultsA total of 25 patients (MPS I, n
conclusionsThe survey concluded that more attention must be paid to the psychosocial status of patients and caregivers. The preference for reference centre for follow-up and treatment, hospitalizations and surgeries were evident. The most significant needs expressed by the patients and caregivers include better understanding of the disease, pain management, monitoring of complications, flexibility in enzyme replacement therapy, home infusions especially for attenuated patients, and improved transitional support from paediatric to adult medicine.
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Registered trials
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