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Review
. 2016 Aug 26;11(1):119.
doi: 10.1186/s13023-016-0503-2.

Health-related quality of life in mucopolysaccharidosis: looking beyond biomedical issues

Christian J Hendriksz  1   2 , Kenneth I Berger  3 , Christina Lampe  4 , Susanne G Kircher  5 , Paul J Orchard  6 , Rebecca Southall  7 , Sarah Long  8 , Stephen Sande  9 , Jeffrey I Gold  10
Affiliations
Review

Health-related quality of life in mucopolysaccharidosis: looking beyond biomedical issues

Christian J Hendriksz et al. Orphanet J Rare Dis. .

Abstract

The mucopolysaccharidoses (MPS) comprise a heterogeneous family of rare, genetic lysosomal storage disorders that result in severe morbidity and reduced life expectancy. Emerging treatments for several of these disorders have triggered the search for clinically relevant biomarkers and clinical markers associated with treatment efficacy in populations and individuals. However, biomedical measures do not tell the whole story when characterizing a complex chronic disorder such as MPS. Health-related quality of life (HRQoL) tools that utilize patient reported outcomes to address patient parameters such as symptoms (pain, fatigue, psychological health), functioning (activity and limitations), or quality of life, have been used to supplement traditional biomedical endpoints. Many of these HRQoL tools have demonstrated that quality of life is negatively impacted in patients with MPS. There is both the opportunity and need to formally standardize and validate HRQoL tools for the different MPS disorders.

Keywords: ADL; Clinical trial; EQ-5D; Enzyme replacement therapy; HRQoL; MPS HAQ; Mucopolysaccharidoses; Pain measurement; Quality of life.

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Figures

Fig. 1
Fig. 1
Important factors affecting HRQoL in patients with MPS. Some of the manifestations may also have a direct impact on ADL, participation in school/employment or social life (due to e.g. surgery, cognitive impairment)
Fig. 2
Fig. 2
Mobility impairment in the International Morquio A registry (including 326 patients with MPS IVA) [14], the Morquio A Clinical Assessment Program (MorCAP) (including 325 patients with MPS IVA) [11], the MPS VI Survey (including 121 patients with MPS VI) [13] and the Dutch MPS Survey (including 55 patients with MPS I, II, III, IV, and VI) [15]
Fig. 3
Fig. 3
Impact of MPS on self-care ADL as measured by the MPS HAQ in the MorCAP study including 325 patients with MPS IVA (mean age 14.5 years) [11]
Fig. 4
Fig. 4
Mean score for the five EQ-5D domains in 61 MPS IVA patients (adults and children) [28]
Fig. 5
Fig. 5
Level of assistance required from caregivers for performing daily activities as measured by the MPS HAQ in adult MPS IVA patients, according to wheelchair use [8]
See this image and copyright information in PMC

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