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

Christian J. Hendriksz, Kenneth I. Berger, Christina Lampe, Susanne G. Kircher, Paul J. Orchard, Rebecca Southall, Sarah Long, Stephen Sande, Jeffrey I. Gold

Research output: Contribution to journalReview articlepeer-review

35 Scopus citations


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.

Original languageEnglish (US)
Article number119
JournalOrphanet Journal of Rare Diseases
Issue number1
StatePublished - Aug 26 2016

Bibliographical note

Publisher Copyright:
© 2016 The Author(s).


  • ADL
  • Clinical trial
  • EQ-5D
  • Enzyme replacement therapy
  • HRQoL
  • Mucopolysaccharidoses
  • Pain measurement
  • Quality of life


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