Skip to main content
main-content

01.12.2014 | Research | Ausgabe 1/2014 Open Access

Orphanet Journal of Rare Diseases 1/2014

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

Zeitschrift:
Orphanet Journal of Rare Diseases > Ausgabe 1/2014
Autoren:
Christian J Hendriksz, Christine Lavery, Mahmut Coker, Sema Kalkan Ucar, Mohit Jain, Lisa Bell, Christina Lampe
Wichtige Hinweise

Electronic supplementary material

The online version of this article (doi:10.​1186/​1750-1172-9-32) contains supplementary material, which is available to authorized users.

Competing interests

Chris Hendriksz: Financial support has been received in person or by the institution from BioMarin in the following capacities: honoraria for lectures, chairman of advisory boards, consultant on projects, research trials and travel grants. Christine Lavery: Financial support has been received in person or by the Society for Mucopolysaccharide Diseases from BioMarin in the following capacities: participant on advisory board, patient access programme for clinical trials, travel grants and unrestricted educational grants. Mahmut Coker: The author declares that he has no competing interests. Sema Kalkan Ucar: The author declares that she has no competing interests. Mohit Jain: Receiving financial support/salary as employee of BioMarin. Lisa Bell: Receiving financial support/salary as employee of BioMarin. Christina Lampe: Received speaker’s and consultant honoraria, travel support and unrestricted grants from Shire, BioMarin and Genzyme.

Authors’ contributions

CH: Contributed to questionnaire design and gave advice on results interpretation and analysis. CL: Contributed to project, questionnaire and focus group design, reached out to UK patients and gave advice on interpretation and analysis. MC & SKU: Contributed by gaining feedback from Turkish patients. MJ: Contributed as project lead across the whole project. LB: Contributed as project sponsor to project and questionnaire design. CL: Contributed to questionnaire design, led the ethics approval review, reached out to German patients and gave advice on interpretation and analysis. All authors reviewed the manuscript for important intellectual content and approved the final manuscript.

Abstract

Background

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.
Zusatzmaterial
Additional file 1:Validated patient reported outcomes measures. Document including detailed information regarding the validated questionnaires used in the study. (DOCX 13 KB)
13023_2013_720_MOESM1_ESM.docx
Additional file 2:Patient demographics and mobility. Data show number (%) of patients. Percentages may not add up to 100% due to rounding. Table showing information on age, height, gender, country, other family members with Morquio A, use of walking aids and wheelchair for children and adult patients included in the study. (DOCX 13 KB)
13023_2013_720_MOESM2_ESM.docx
Additional file 3:Clinical characteristics occurring in at least 40% of children or adults. Table showing clinical characteristics occurring in at least 40% of children or adults included in the study. (DOCX 13 KB)
13023_2013_720_MOESM3_ESM.docx
Additional file 4:Mean score for the five EQ-5D-5L domains according to mobility/wheelchair use. Data for adults and children with Morquio A. Table showing mean score for the five EQ-5D-5L domains (Mobility, Self-care, Usual activities, Pain/Discomfort, Anxiety/Depression) in adults and children with Morquio A not using a wheelchair, patients only using a wheelchair when needed, and patients always using a wheelchair. (DOCX 14 KB)
13023_2013_720_MOESM4_ESM.docx
Additional file 5:Mean number of caregiving hours/day on weekdays and weekends for adults and children with Morquio A, according to wheelchair use/mobility level. Table showing the mean number of caregiving hours/day on weekdays and weekends in adults and children with Morquio A according to wheelchair use/mobility level. Mobility levels compared in adults: no wheelchair, wheelchair only when needed, wheelchair always; mobility levels compared in children: no wheelchair use, wheelchair use. (DOCX 14 KB)
13023_2013_720_MOESM5_ESM.docx
Additional file 6:Proportion of adult patients experiencing pain, using pain medication and number and location of body parts affected by pain according to mobility/wheelchair use. Table showing the proportion of adult patients experiencing pain, using pain medication and number and location of body parts affected by pain according to mobility/wheelchair use. (DOCX 14 KB)
13023_2013_720_MOESM6_ESM.docx
Additional file 7:Proportion of adults (a) and children (b) with Morquio A feeling extremely tired 0, 1-2 or ≥ 3 evenings per week according to mobility/wheelchair use. Graph showing the proporation of adults and children with Morquio A feeling extremely tired 0, 1-2 or ≥ 3 evenings per week according to mobility/wheelchair use. (PDF 177 KB)
13023_2013_720_MOESM7_ESM.pdf
Additional file 8:Comparison of clinical manifestations and need for walking aids or wheelchair use in children enrolled in this survey vs. those enrolled in natural history studies[3, 4]. Graph showing clinical manifestations and need for walking aids or wheelchair use in children enrolled in this survey vs. those enrolled in natural history studies. (PDF 131 KB)
Authors’ original file for figure 1
13023_2013_720_MOESM9_ESM.pdf
Authors’ original file for figure 2
13023_2013_720_MOESM10_ESM.pdf
Authors’ original file for figure 3
13023_2013_720_MOESM11_ESM.pdf
Literatur
Über diesen Artikel

Weitere Artikel der Ausgabe 1/2014

Orphanet Journal of Rare Diseases 1/2014 Zur Ausgabe