Burden of disease in patients with Morquio A syndrome: results from an international patient-reported outcomes survey

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dc.contributor.authorHendriksz, Christian J.
dc.contributor.authorLavery, Christine
dc.contributor.authorCoker, Mahmut
dc.contributor.authorUcar, Sema Kalkan
dc.contributor.authorJain, Mohit
dc.contributor.authorBell, Lisa
dc.contributor.authorLampe, Christina
dc.date.accessioned2019-10-27T22:16:12Z
dc.date.available2019-10-27T22:16:12Z
dc.date.issued2014
dc.departmentEge Üniversitesien_US
dc.description.abstractBackground: Morquio A syndrome (or mucopolysaccharidosis IVa) is an ultra-rare multi-organ disease, resulting in significantly impaired functional capacity, mobility and quality of life (QoL). Methods: This patient-reported outcomes survey evaluated the global burden of Morquio A among adults (>= 18 years, N = 27) and children (7- 17 years, N = 36), including the impact on mobility, QoL, pain and fatigue. QoL was assessed using the general Health-Related Quality of Life (HRQoL) questionnaire (the EuroQol [EQ]-5D-5L). Pain and pain interference with daily activities were assessed using the Brief Pain Inventory Short Form (BPI-SF) in adults and the Adolescent Pediatric Pain Tool (APPT) in children. Fatigue was assessed by questioning the patients on the number of evenings in a week they felt extremely tired. Results: The clinical data showed a wide heterogeneity in clinical manifestations between patients, with the majority of patients showing differing levels of endurance, short stature, bone and joint abnormalities, abnormal gait and eye problems. Mobility was considerably impaired: 44.4% of children and 85.2% of adult patients were using a wheelchair. High wheelchair reliance significantly reduced QoL. This was mainly driven by reduced scores in the Mobility, Self-care, and Usual Activity domains. The HRQoL utility values were 0.846, 0.582 and 0.057 respectively in adults not using a wheelchair, using a wheelchair only when needed and always using a wheelchair; values were 0.534, 0.664 and -0.180 respectively in children. Employed adult patients had a better HRQoL than unemployed patients (HRQoL utility value 0.640 vs. 0.275, respectively). 64% of children and 74% of adult patients had joint pain; fatigue was reported by 69% of children and 63% of adults. Overall, increased mobility was associated with more severe and widespread pain and more fatigue. Conclusions: The HRQoL of Morquio A patients is mainly driven by the ability to remain independently mobile without becoming wheelchair dependent. Their QoL reduces dramatically if they always have to use their wheelchair. Even a slightly better mobility (wheelchair use only when needed) greatly improves QoL. Maintenance of functional capacity and mobility paired with better pain management are likely to improve QoL.en_US
dc.description.sponsorshipBioMarin Europe Ltd.en_US
dc.description.sponsorshipThe authors are grateful to the following patient organisations/MPS Societies for their support with the set-up of the study and/or approving the contact with the patients and their families: Gesellschaft fur Mukopolysaccharidosen e. V., MPS Espania, The MPS Society UK, Turkish MPS Society, SP-MPS Patient Association and ACOPEL Brazil. The authors are extremely thankful to the patients and their families for participating in and completing this survey. The authors would also like to thank Dr. Derralynn Hughs and Prof. Michael Beck for their review of the questionnaires. In addition, they would like to thank Andrew Olaye, Claire Brien, Tugba Aydemir Erturk, Tiago Barras, Valeria Soares and Daniela Giovannetti from BioMarin for their contribution to the organisation, analysis and/or interpretation of the data, Ismar Healthcare NV for their writing assistance (which was funded by BioMarin Europe Ltd) and IMS Health Corp. for their assistance in performing the study (which was funded by BioMarin Europe Ltd).en_US
dc.identifier.doi10.1186/1750-1172-9-32en_US
dc.identifier.issn1750-1172
dc.identifier.pmid24602160en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.urihttps://doi.org/10.1186/1750-1172-9-32
dc.identifier.urihttps://hdl.handle.net/11454/50260
dc.identifier.volume9en_US
dc.identifier.wosWOS:000335253700001en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherBiomed Central Ltden_US
dc.relation.ispartofOrphanet Journal of Rare Diseasesen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectMucopolysaccharidosis IVen_US
dc.subjectMorquio A syndromeen_US
dc.subjectPatient-reported outcomesen_US
dc.subjectQuality of lifeen_US
dc.subjectWheelchairsen_US
dc.subjectMobilityen_US
dc.subjectPain measurementen_US
dc.subjectFatigueen_US
dc.subjectEQ-5D-5Len_US
dc.titleBurden of disease in patients with Morquio A syndrome: results from an international patient-reported outcomes surveyen_US
dc.typeArticleen_US

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