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Orphanet Journal of Rare Diseases
Published in: Orphanet Journal of Rare Diseases 1/2016

Open Access 01-12-2016 | Review

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

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

Published in: Orphanet Journal of Rare Diseases | Issue 1/2016

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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.
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Literature
1.
Muenzer J. Overview of the mucopolysaccharidoses. Rheumatology (Oxford). 2011;50 Suppl 5:v4–v12.CrossRef
2.
Neufeld EF, Muenzer J. The mucopolysaccharidoses. 2001;8:3421–3452.
3.
Lavery C, Hendriksz C. Mortality in patients with Morquio syndrome A. JIMD Rep. 2015;15:59–66.PubMed
4.
Jones SA, Almássy Z, Beck M, Burt K, Clarke JT, Giugliani R, et al. Mortality and cause of death in mucopolysaccharidosis type II - a historical review based on data from the Hunter Outcome Survey (HOS). J Inherit Metab Dis. 2009;32:534–43.CrossRefPubMed
5.
Giugliani R, Lampe C, Guffon N, Ketteridge D, Leão-Teles E, Wraith JE, et al. Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome)-10-year follow-up of patients who previously participated in an MPS VI survey study. Am J Med Genet A. 2014;164A:1953–64.CrossRefPubMed
6.
The WHOQOL Group. The World Health Organization Quality of Life Assessment (WHOQOL). Development and psychometric properties. Soc Sci Med. 1998;46:1569–85.CrossRef
7.
8.
Hendriksz CJ, Lavery C, Coker M, Kalkan Ucar S, Jain M, Bell L, et al. The burden endured by caregivers of patients with morquio a syndrome: results from an international patient-reported outcomes survey. JIEMS. 2014;9:32.
9.
Hendriksz CJ, Al-Jawad M, Berger KI, Hawley SM, Lawrence R, Mc Ardle C, et al. Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA. J Inherit Metab Dis. 2013;36:309–22.CrossRefPubMed
10.
Bergwerk KL, Rabinowitz YS, Falk RE. Quality of life related to visual function in three young adults with mucopolysaccharidoses. ScientificWorldJournal. 2003;3:922–9.CrossRefPubMed
11.
Harmatz P, Mengel KE, Giugliani R, Valayannopoulos V, Lin SP, Parini R, et al. The Morquio A Clinical Assessment Program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects. Mol Genet Metab. 2013;109:54–61.CrossRefPubMed
12.
Tomatsu S, Montaño AM, Oikawa H, Rowan DJ, Smith M, Barrera L, et al. Mucopolysaccharidosis type IVA (Morquio A disease): clinical review and current treatment. Curr Pharm Biotechnol. 2011;12:931–45.CrossRefPubMed
13.
Swiedler SJ, Beck M, Bajbouj M, Giugliani R, Schwartz I, Harmatz P, et al. Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). Am J Med Genet. 2005;134A:144–50.CrossRefPubMed
14.
Montaño AM, Tomatsu S, Gottesman GS, Smith M, Orii T. International Morquio A Registry: clinical manifestation and natural course of Morquio A disease. J Inherit Metab Dis. 2007;30:165–74.CrossRefPubMed
15.
Brands MMG, Güngör D, van den Hout JMP, Karstens FPJ, Oussoren E, Plug I, et al. Pain: a prevalent feature in patients with mucopolysaccharidosis. Results of a cross-sectional national survey. J Inherit Metab Dis. 2015;38:323–31.CrossRefPubMed
16.
Aslam R, van Bommel AC, Hendriksz CJ, Jester A. Subjective and objective assessment of hand function in mucopolysaccharidosis IVa patients. JIMD Rep. 2013;9:59–65.CrossRefPubMed
17.
White K, Kim T, Neufeld JA. Clinical assessment and treatment of carpal tunnel syndrome in the mucopolysaccharidoses. J Pediatr Rehabil Med. 2010;3:57–62.PubMed
18.
19.
20.
21.
22.
Riazi A. Patient-reported outcome measures in multiple sclerosis. Int MS J. 2006;13:92–9.PubMed
23.
Clarke LA, Wraith JE, Beck M, Kolodny EH, Pastores GM, Muenzer J, et al. Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I. Pediatrics. 2009;123:229–40.CrossRefPubMed
24.
Harmatz P, Whitley CB, Waber L, Pais R, Steiner R, Plecko B, et al. Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). J Pediatr. 2004;144:574–80.CrossRefPubMed
25.
Harmatz P, Ketteridge D, Giugliani R, Guffon N, Teles EL, Miranda MC, et al. Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-acetylgalactosamine 4-sulfatase. Pediatrics. 2005;115:e681–9.CrossRefPubMed
26.
Harmatz P, Giugliani R, Schwartz I, Guffon N, Teles EL, Sá Miranda MC, et al. Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study. J Pediatr. 2006;148:533–9.CrossRefPubMed
27.
Raluy-Callado M, Chen WH, Whiteman DAH, Fang J, Wiklund I. The impact of Hunter syndrome (mucopolysaccharidosis type II) on health-related quality of life. Orphanet J Rare Dis. 2013;8:101.CrossRefPubMedPubMedCentral
28.
Hendriksz CJ, Lavery C, Coker M, Ucar SK, Jain M, Bell L, et al. Burden of disease in patients with Morquio A syndrome: results from an international patient-reported outcomes survey. Orphanet J Rare Dis. 2014;9:32.CrossRefPubMedPubMedCentral
29.
Harmatz P, Treadwell M, Burton BK, Mitchell J, Muschol N, Jones S, Pastores G, Lau H, Sparkes R, Sutton VR, Genter F, Haller C, Shaywitz A. Impact of elosulfase alfa on pain in patients with Morquio syndrome type A. Mol Genet Metab. 2015;114:S51–2.CrossRef
30.
31.
Kuratsubo I, Suzuki Y, Orii KO, Kato T, Orii T, Kondo N. Psychological status of patients with mucopolysaccharidosis type II and their parents. Pediatr Int. 2009;51:41–7.CrossRefPubMed
32.
Hendriksz CJ, Giugliani R, Harmatz P, Mengel E, Guffon N, Valayannopoulos V, et al. Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial. Mol Genet Metab. 2015;114:178–85.CrossRefPubMed
33.
Wraith JE, Clarke LA, Beck M, Kolodny EH, Pastores GM, Muenzer J, et al. Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human a-L-iduronidase (laronidase). J Pediatr. 2004;144:581–8.CrossRefPubMed
34.
Kato T, Kato Z, Kuratsubo I, Ota T, Orii T, Kondo N, et al. Evaluation of ADL in patients with Hunter disease using FIM score. Brain Dev. 2007;29:298–305.CrossRefPubMed
35.
Marucha J, Jurecka A, Syczewska M, Rózdzynska-Swiatkowska A, Tylki-Szymanska A. Restricted joint range of motion in patients with MPS II: correlation with height, age and functional status. Acta Paediatr. 2012;101:e183–8.CrossRefPubMed
36.
Needham M, Packman W, Rappoport M, Quinn N, Cordova M, Macias S, et al. MPS II: adaptive behavior of patients and impact on the family system. J Genet Couns. 2014;23:330–8.CrossRefPubMed
37.
Shapiro EG, Rudser K, Ahmed A, Steiner RD, Delaney KA, Yund B, et al. A longitudinal study of emotional adjustment, quality of life and adaptive function in attenuated MPS II. Mol Genet Metab Rep. 2016;7:32–9.CrossRefPubMedPubMedCentral
38.
Holt JB, Poe MD, Escolar ML. Natural progression of neurological disease in mucopolysaccharidosis type II. Pediatrics. 2011;127:e1258–1265.CrossRefPubMed
39.
Kunin-Batson AS, Shapiro EG, Rudser KD, Lavery CA, Bjoraker KJ, Jones SA, et al. Long-term cognitive and functional outcomes in children with mucopolysaccharidosis (MPS)-IH (hurler syndrome) treated with hematopoietic cell transplantation. JIMD Rep. 2016. doi:10.​1007/​8904_​2015_​521.
40.
Bjoraker KJ, Delaney K, Peters C, Krivit W, Shapiro EG. Long-term outcomes of adaptive functions for children with mucopolysaccharidosis I (Hurler syndrome) treated with hematopoietic stem cell transplantation. J Dev Behav Pediatr. 2006;27:290–6.CrossRefPubMed
41.
Lampe C, Jain M, Olaye A, Meesen B, Decker C, Mengel E. Relationship between patient-reported outcomes and clinical outcomes in patients with Morquio A syndrome. J Inborn Error Metab Screen. 2015;3:1–8.CrossRef
42.
Lavery C, Wedehase B, Graham S, Harmatz P, Hendriksz CJ. Impact of Mucopolysaccharidosis on Daily living, Employment, General Health and Parenthood of Adult Patients. Poster presented at WORLDSymposium 2015; February 9–13, 2015; Orlando, FL.
43.
Needham M, Packman W, Quinn N, Rappoport M, Aoki C, Bostrom A, et al. Health-related quality of life in patients with MPS II. J Genet Couns. 2015;24:635–44.CrossRefPubMed
44.
Brands MMMG, Oussoren E, Ruijter GJG, Vollebregt AAM, van den Hout HMP, Joosten KFM, et al. Up to five years experience with 11 mucopolysaccharidosis type VI patients. Mol Genet Metab. 2013;109:70–6.CrossRefPubMed
45.
Hendriksz CJ, Burton B, Fleming TR, Harmatz P, Hughes D, Jones SA, et al. Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study. J Inherit Metab Dis. 2014;37:979–90.CrossRefPubMedPubMedCentral
46.
Valayannopoulos V, Wijburg FA. Therapy for the mucopolysaccharidoses. Rheumatology (Oxford). 2011;50 Suppl 5:v49–59.CrossRef
47.
Decker C, Yu Z, Giugliani R, Schwartz IVD, Guffon N, Teles EL, et al. Enzyme replacement therapy for mucopolysaccharidosis VI: growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase. J Pediatr Rehabil Med. 2010;3:89–100.PubMedPubMedCentral
48.
Braunlin E, Rosenfeld H, Kampmann C, Johnson J, Beck M, Giugliani R, et al. Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy. J Inherit Metab Dis. 2013;36:385–94.CrossRefPubMed
49.
Jones SA, Bialer M, Parini R, Martin K, Wang H, Yang K, et al. Safety and clinical activity of elosulfase alfa in pediatric patients with Morquio A syndrome (mucopolysaccharidosis IVA) less than 5 years. Pediatr Res. 2015;78:717–22.CrossRefPubMedPubMedCentral
50.
Beck M, Arn P, Giugliani R, Muenzer J, Okuyama T, Taylor J, et al. The natural history of MPS I: global perspectives from the MPS I Registry. Genet Med. 2014;16:759–65.CrossRefPubMedPubMedCentral
51.
Tanaka A, Okuyama T, Suzuki Y, Sakai N, Takakura H, Sawada T, et al. Long-term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with mucopolysaccharidosis type II: a nationwide survey in Japan. Mol Genet Metab. 2012;107:513–20.CrossRefPubMed
52.
Sifuentes M, Doroshow R, Hoft R, Mason G, Walot I, Diament M, et al. A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years. Mol Genet Metab. 2007;90:171–80.CrossRefPubMed
53.
Tylki-Szymanska A, Marucha J, Jurecka A, Syczewska M, Czartoryska B. Efficacy of recombinant human a-L-iduronidase (laronidase) on restricted range of motion of upper extremities in mucopolysaccharidosis type I patients. J Inherit Metab Dis. 2010;33:151–7.CrossRefPubMed
54.
Kosinski M, Zhao SZ, Dedhiya S, Osterhaus JT, Ware JE. Determining minimally important changes in generic and disease-specific health-related quality of life questionnaires in clinical trials of rheumatoid arthritis. Arthritis Rheum. 2000;43:1478–87.CrossRefPubMed
55.
Muenzer J, Beck M, Eng CM, Giugliani R, Harmatz P, Martin R, et al. Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome. Genet Med. 2011;13:95–101.CrossRefPubMed
56.
Lin HY, Chen MR, Chuang CK, Chen CP, Lin DS, Chien YH, et al. Enzyme replacement therapy for mucopolysaccharidosis VI-experience in Taiwan. J Inherit Metab Dis. 2010;33 Suppl 3:S421–7.CrossRefPubMed
57.
Davis E, Waters E, Mackinnon A, Reddihough D, Graham HK, Mehmet-Radji O, et al. Paediatric quality of life instruments: a review of the impact of the conceptual framework on outcomes. Dev Med Child Neurol. 2006;48:311–8.CrossRefPubMed
58.
Solans M, Pane S, Estrada MD, Serra-Sutton V, Berra S, Herdman M, et al. Health-related quality of life measurement in children and adolescents: a systematic review of generic and disease-specific instruments. Value Health. 2008;11:742–64.CrossRefPubMed
59.
Palermo TM, Long AC, Lewandowski AS, Drotar D, Quittner AL, Walker LS. Evidence-based assessment of health-related quality of life and functional impairment in pediatric psychology. J Pediatr Psychol. 2008;33:983–96.CrossRefPubMedPubMedCentral
60.
Burton BK, Berger KI, Lewis GD, Tarnopolsky M, Treadwell M, Mitchell JJ, et al. Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: a randomized, double-blind, pilot study. Am J Med Genet A. 2015;167A:2272–81.CrossRefPubMed
61.
Jacob E, Mack AK, Savedra M, Van Cleve L, Wilkie DJ. Adolescent pediatric pain tool for multidimensional measurement of pain in children and adolescents. Pain Manag Nurs. 2014;15:694–706.CrossRefPubMed
62.
63.
Breau LM, McGrath PJ, Camfield CS, Finley GA. Psychometric properties of the non-communicating children’s pain checklist-revised. Pain. 2002;99:349–57.CrossRefPubMed
64.
Ramey DR, Raynauld JP, Fries JF. The health assessment questionnaire 1992: status and review. Arthritis Care Res. 1992;5:9–29.CrossRef
65.
Singh G, Athreya BH, Fries JF, Goldsmith DP. Measurement of health status in children with juvenile rheumatoid arthritis. Arthritis Rheum. 1994;37:761–9.CrossRef
66.
Guarany NR, Schwartz IVD, Guarany FC, Giugliani R. Functional capacity evaluation of patients with mucopolysaccharidosis. J Pediatr Rehabil Med. 2012;5:37–46.PubMed
67.
Beck M, Muenzer J, Scarpa M. Evaluation of disease severity in mucopolysaccharidoses. J Pediatr Rehabil Med. 2010;3:39–46.PubMed
68.
69.
70.
71.
Varni JW, Burwinkle TM. The PedsQL™ as a patient-reported outcome in children and adolescents with attention-deficit/hyperactivity disorder: a population-based study. Health Qual Life Outcomes. 2006;4:26.CrossRefPubMedPubMedCentral
72.
Bunge EM, Essink-Bot ML, Kobussen MPHM, van Suijlekom-Smit LWA, Moll HA, Raat H. Reliability and validity of health status measurement by the TAPQOL. Arch Dis Child. 2005;90:351–8.CrossRefPubMedPubMedCentral
73.
Verrips EGH, Vogels TGC, Koopman HM, Theunissen NCM, Kamphuis RP, Fekkes M, et al. Measuring health-related quality of life in a child population. Eur J Public Health. 1999;9:188–93.CrossRef
74.
Varni JW, Sherman SA, Burwinkle TM, Dickinson PE, Dixon P. The PedsQL™ family impact module: preliminary reliability and validity. Health Qual Life Outcomes. 2004;2:55.CrossRefPubMedPubMedCentral
75.
Orme M, Kerrigan J, Tyas D, Russell N, Nixon R. The effect of disease, functional status, and relapses on the utility of people with multiple sclerosis in the UK. Value Health. 2007;10:54–60.CrossRefPubMed
76.
Kobelt G, Lindgren P, Lindroth Y, Jacobson L, Eberhardt K. Modelling the effect of function and disease activity on costs and quality of life in rheumatoid arthritis. Rheumatology. 2005;44:1169–75.CrossRefPubMed
77.
78.
Metadata
Title
Health-related quality of life in mucopolysaccharidosis: looking beyond biomedical issues
Authors
Christian J. Hendriksz
Kenneth I. Berger
Christina Lampe
Susanne G. Kircher
Paul J. Orchard
Rebecca Southall
Sarah Long
Stephen Sande
Jeffrey I. Gold
Publication date
01-12-2016
Publisher
BioMed Central
Published in
Orphanet Journal of Rare Diseases / Issue 1/2016
Electronic ISSN: 1750-1172
DOI
https://doi.org/10.1186/s13023-016-0503-2

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