title: Health-related quality of life in mucopolysaccharidosis: looking beyond biomedical issues.
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.
authors: Adult Inherited Metabolic Disorders, Consultant Transitional Metabolic Medicine, The Mark Holland Metabolic Unit, Salford Royal NHS Foundation Trust, Ladywell NW2- 2nd Floor Room 112, Salford, Manchester, M6 8HD, UK. cfya@sky.com.|Paediatrics and Child Health, University of Pretoria, Steve Biko Academic Unit, Pretoria, South Africa. cfya@sky.com.
authors: Christian J
authors: CJ
authors: Hendriksz
authors: Division of Pulmonary, Critical Care and Sleep Medicine, New York University School of Medicine and André Cournand Pulmonary Physiology Laboratory, Bellevue Hospital, New York, USA.
authors: Kenneth I
authors: KI
authors: Berger
authors: Centre for Rare Diseases, Clinic for children and adolescents, Helios Dr. Horst Schmidt Kliniken, Wiesbaden, Germany.
authors: Christina
authors: C
authors: Lampe
authors: Institute of Medical Chemistry and Medical Genetics, Medical University of Vienna, Vienna, Austria.
authors: Susanne G
authors: SG
authors: Kircher
authors: Department of Pediatrics, Division of Blood & Marrow Transplantation, University of Minnesota, Minneapolis, MN, USA.
authors: Paul J
authors: PJ
authors: Orchard
authors: GB Prohealth Ltd, Lichfield, UK.
authors: Rebecca
authors: R
authors: Southall
authors: School of Sociology and Social Policy, University of Bath, Bath, UK.
authors: Sarah
authors: S
authors: Long
authors: BioMarin Pharmaceutical Inc., Novato, CA, USA.
authors: Stephen
authors: S
authors: Sande
authors: Keck School of Medicine, Departments of Anesthesiology, Pediatrics, and Psychiatry & Behavioral Sciences, Children's Hospital Los Angeles, Anesthesiology Critical Care Medicine, Pediatric Pain Management Clinic, University of Southern California, California, USA.
authors: Jeffrey I
authors: JI
authors: Gold
mesh_terms: D056947:Enzyme Replacement Therapy; D005221:Fatigue / Q000188:drug therapy / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D009083:Mucopolysaccharidoses / Q000188:drug therapy* / Q000473:pathology / Q000503:physiopathology*; D010146:Pain / Q000188:drug therapy / Q000473:pathology / Q000503:physiopathology; D011788:Quality of Life; D011795:Surveys and Questionnaires
keywords: ADL; Clinical trial; EQ-5D; Enzyme replacement therapy; HRQoL; MPS HAQ; Mucopolysaccharidoses; Pain measurement; Quality of life