{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["17(1)"],"submitter":["Guffon N"],"funding":["Sanofi"],"pubmed_abstract":["<h4>Background</h4>Mucopolysaccharidoses (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.<h4>Results</h4>A total of 25 patients (MPS I, n<sub>p</sub> = 11; MPS II, n<sub>p</sub> = 9; MPS VI, n<sub>p</sub> = 5) were included and about 36 in-depth interviews (caregivers alone, n<sub>c</sub> = 8; patients-caregiver pair, n<sub>c+p</sub> = 22; patients alone, n<sub>p</sub> = 6) were conducted. Except "],"journal":["Orphanet journal of rare diseases"],"pagination":["448"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9786416"],"repository":["biostudies-literature"],"pubmed_title":["Understanding the challenges, unmet needs, and expectations of mucopolysaccharidoses I, II and VI patients and their caregivers in France: a survey study."],"pmcid":["PMC9786416"],"pubmed_authors":["Lacombe D","Bausson P","Guffon N","Maillot F","Noel E","Belmatoug N","Genevaz D","Le Peillet Feuillet E","Jaussaud R"],"additional_accession":[]},"is_claimable":false,"name":"Understanding the challenges, unmet needs, and expectations of mucopolysaccharidoses I, II and VI patients and their caregivers in France: a survey study.","description":"<h4>Background</h4>Mucopolysaccharidoses (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.<h4>Results</h4>A total of 25 patients (MPS I, n<sub>p</sub> = 11; MPS II, n<sub>p</sub> = 9; MPS VI, n<sub>p</sub> = 5) were included and about 36 in-depth interviews (caregivers alone, n<sub>c</sub> = 8; patients-caregiver pair, n<sub>c+p</sub> = 22; patients alone, n<sub>p</sub> = 6) were conducted. Except ","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Dec","modification":"2025-04-18T16:55:15.008Z","creation":"2025-04-07T04:23:32.383Z"},"accession":"S-EPMC9786416","cross_references":{"pubmed":["36564803"],"doi":["10.1186/s13023-022-02593-2"]}}