A conceptual disease model for adult Pompe disease

Orphanet Journal of Rare Diseases

Leona Hakkaart²  Ans T. van der Ploeg¹  Deniz Güngör¹  Michelle E. Kruijshaar¹  Maureen P.M.H. Rutten-Van Mölken²  W. Ken Redekop²  Tim A. Kanters¹ 

[1] Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands;Institute for Medical Technology Assessment, Department of Health Policy & Management, Erasmus University Rotterdam, Rotterdam, 3000DR, The Netherlands

关键词: Pompe disease;    Conceptual model;    Orphan drugs;   

Others  :  1225182
DOI  :  10.1186/s13023-015-0334-6

 received in 2014-12-22, accepted in 2015-08-31,  发布年份 2015

【 摘 要 】

Background

Studies in orphan diseases are, by nature, confronted with small patient populations, meaning that randomized controlled trials will have limited statistical power. In order to estimate the effectiveness of treatments in orphan diseases and extrapolate effects into the future, alternative models might be needed. The purpose of this study is to develop a conceptual disease model for Pompe disease in adults (an orphan disease). This conceptual model describes the associations between the most important levels of health concepts for Pompe disease in adults, from biological parameters via physiological parameters, symptoms and functional indicators to health perceptions and final health outcomes as measured in terms of health-related quality of life.

Methods

The structure of the Wilson-Cleary health outcomes model was used as a blueprint, and filled with clinically relevant aspects for Pompe disease based on literature and expert opinion. Multiple observations per patient from a Dutch cohort study in untreated patients were used to quantify the relationships between the different levels of health concepts in the model by means of regression analyses.

Results

Enzyme activity, muscle strength, respiratory function, fatigue, level of handicap, general health perceptions, mental and physical component scales and utility described the different levels of health concepts in the Wilson-Cleary model for Pompe disease. Regression analyses showed that functional status was affected by fatigue, muscle strength and respiratory function. Health perceptions were affected by handicap. In turn, self-reported quality of life was affected by health perceptions.

Conclusions

We conceptualized a disease model that incorporated the mechanisms believed to be responsible for impaired quality of life in Pompe disease. The model provides a comprehensive overview of various aspects of Pompe disease in adults, which can be useful for both clinicians and policymakers to support their multi-faceted decision making.

【 授权许可】

   
2015 Kanters et al.

【 图 表 】

Fig. 1.

【 参考文献 】

• [1]Wilcken B. Rare diseases and the assessment of intervention: What sorts of clinical trials can we use? J Inherit Metab Dis. 2001; 24:291-8.
• [2]Garau M, Mestre-Ferrandiz J. Access mechanisms for orphan drugs: A comparative study of selected European countries. OHE Briefing. 2009; 52:1-30.
• [3]Vegter S, Rozenbaum MH, Postema R, Tolley K, Postma MJ. Review of regulatory recommendations for orphan drug submissions in the Netherlands and Scotland: Focus on the underlying pharmacoeconomic evaluations. Clin Ther. 2010; 32:1651-61.
• [4]Wilson IB, Cleary PD. Linking clinical variables with health-related quality of life. JAMA. 1995; 273:59-65.
• [5]Hers HG. Α-glucosidase deficiency in generalized glycogen-storage disease (Pompe’s disease). Biochem J. 1963; 86:11.
• [6]Van den Hout JMP, Reuser AJJ, De Klerk JBC, Arts WF, Smeitink JAM, Van der Ploeg AT. Enzyme therapy for Pompe disease with recombinant human α-glucosidase from rabbit milk. J Inherit Metab Dis. 2001; 24:266-74.
• [7]Kishnani PS, Hwu WL, Mandel H, Nicolino M, Yong F, Corzo D. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr. 2006; 148:671-676e2.
• [8]Van der Ploeg AT, Reuser AJJ. Pompe’s disease. Lancet. 2008; 372:1342-53.
• [9]Engel AG, Gomez MR. Acid maltase levels in muscle in heterozygous acid maltase deficiency and in non-weak and neuromuscular disease controls. J Neurol Neurosurg Psychiatry. 1970; 33:801-4.
• [10]Rosenow EC, Engel AG. Acid maltase deficiency in adults presenting as respiratory failure. Am J Med. 1978; 64:485-91.
• [11]Güngör D, De Vries JM, Hop WCJ, Reuser AJJ, Van Doorn PA, Van der Ploeg AT et al.. Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy. Orphanet J Rare Dis. 2011; 6:34. BioMed Central Full Text
• [12]Van den Hout H, Reuser AJJ, Vulto AG, Loonen MCB, Cromme-Dijkhuis A, Van der Ploeg AT. Recombinant human [alpha]-glucosidase from rabbit milk in Pompe patients. Lancet. 2000; 356:397-8.
• [13]Van der Ploeg AT, Clemens PR, Corzo D, Escolar DM, Florence J, Groeneveld GJ et al.. A randomized study of alglucosidase alfa in late-onset Pompe’s disease. N Engl J Med. 2010; 362:1396-406.
• [14]Kishnani PS, Howell RR. Pompe disease in infants and children. J Pediatr. 2004; 144:S35-43.
• [15]Güngör D, Kruijshaar ME, Plug L, D’Agostino RB, Hagemans MLC, Van Doorn PA et al.. Impact of enzyme replacement therapy on survival in adults with Pompe disease: Results from a prospective international observational study. Orphanet J Rare Dis. 2013; 8:49. BioMed Central Full Text
• [16]Roberts M, Russell LB, Paltiel AD, Chambers M, McEwan P, Krahn M. Conceptualizing a model: A report of the ISPOR-SMDM modeling good research practices task force-2. Med Decis Making. 2012; 32:678-89.
• [17]Kanters TA, Hagemans MLC, Van der Beek NAME, Rutten FFH, Van der Ploeg AT, Hakkaart L. Burden of illness of Pompe disease in patients only receiving supportive care. J Inherit Metab Dis. 2011; 34:1045-52.
• [18]Wooldridge JM. Econometric analysis of cross section and panel data. The MIT Press, Cambridge, Massachusetts; 2002.
• [19]Hagemans MLC, Winkel LPF, Van Doorn PA, Hop WJC, Loonen MCB, Reuser AJJ et al.. Clinical manifestation and natural course of late-onset Pompe’s disease in 54 Dutch patients. Brain. 2005; 128:671-7.
• [20]Van der Beek NAME, Van Capelle CI, Van der Velden-Van Etten KI, Hop WCJ, Van den Berg B, Reuser AJJ et al.. Rate of progression and predictive factors for pulmonary outcome in children and adults with Pompe disease. Mol Genet Metab. 2011; 104:129-36.
• [21]Wokke JHJ, Escolar DM, Pestronk A, Jaffe KM, Carter GT, Van den Berg LH et al.. Clinical features of late‐onset Pompe disease: A prospective cohort study. Muscle Nerve. 2008; 38:1236-45.
• [22]De Vries JM, Van der Beek NAME, Hop WCJ, Karstens FPJ, Wokke JH, De Visser M et al.. Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: An open-label single-center study. Orphanet J Rare Dis. 2012; 7:73. BioMed Central Full Text
• [23]Quanjer PH, Tammeling GJ, Cotes JE, Pedersen OF, Peslin R, Yernault JC. Lung volumes and forced ventilatory flows. Report working party standardization of lung function tests, European community for steel and coal. Official statement of the European respiratory society. Eur Respir J Suppl. 1993; 16:5-40.
• [24]Hagemans MLC, Van Schie SPM, Janssens ACJW, Van Doorn PA, Reuser AJJ, Van der Ploeg AT. Fatigue: An important feature of late-onset Ppompe disease. J Neurol. 2007; 254:941-5.
• [25]De Vries JM, Hagemans MLC, Bussmann JBJ, Van der Ploeg AT, van Doorn PA. Fatigue in neuromuscular disorders: Focus on Guillain–Barré syndrome and Pompe disease. Cell Mol Life Sci. 2010; 67:701-13.
• [26]Mellies U, Lofaso F. Pompe disease: A neuromuscular disease with respiratory muscle involvement. Respir Med. 2009; 103:477-84.
• [27]Krupp LB, LaRocca NG, Muir-Nash J, Steinberg AD. The fatigue severity scale: Application to patients with multiple sclerosis and systemic lupus erythematosus. Arch Neurol. 1989; 46:1121-3.
• [28]Merkies ISJ, Schmitz PIM, Van der Meché FGA, Samijn J, Van Doorn PA. Psychometric evaluation of a new handicap scale in immune‐mediated polyneuropathies. Muscle Nerve. 2002; 25:370-7.
• [29]Hagemans MLC, Laforet P, Hop WJC, Merkies ISJ, Van Doorn PA, Reuser AJJ et al.. Impact of late-onset Pompe disease on participation in daily life activities: Evaluation of the Rotterdam handicap scale. Neuromuscular Disord. 2007; 17:537-43.
• [30]Group EQ. EuroQol: A new facility for the measurement of health-related quality of life. Health Policy. 1990; 16:199-208.
• [31]Hagemans MLC, Janssens A, Winkel LPF, Sieradzan KA, Reuser AJJ, Van Doorn PA et al.. Late-onset Pompe disease primarily affects quality of life in physical health domains. Neurology. 2004; 63:1688-92.
• [32]Ware JE, Kosinski M. SF-36 physical & mental health summary scales: A manual for users of version 1. QualityMetric Incorporated, Lincoln, RI; 2001.
• [33]Ware JE, Sherbourne CD. The MOS 36-item short-form health survey (SF-36): I. conceptual framework and item selection. Med Care. 1992; 30:473-83.
• [34]Lamers LM, McDonnell J, Stalmeier PFM, Krabbe PFM, Busschbach JJV. The Dutch tariff: Results and arguments for an effective design for national EQ‐5D valuation studies. Health Econ. 2006; 15:1121-32.
• [35]Hagemans MLC, Winkel LPF, Hop WCJ, Reuser AJJ, Van Doorn PA, Van der Ploeg AT. Disease severity in children and adults with Pompe disease related to age and disease duration. Neurology. 2005; 64:2139-41.
• [36]Herzog A, Hartung R, Reuser AJJ, Hermanns P, Runz H, Karabul N et al.. A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: Molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations. Orphanet J Rare Dis. 2012; 7:35. BioMed Central Full Text
• [37]Van der Beek NAME, Hagemans MLC, Reuser AJJ, Hop WCJ, Van der Ploeg AT, Van Doorn PA et al.. Rate of disease progression during long-term follow-up of patients with late-onset Pompe disease. Neuromuscular Disord. 2009; 19:113-7.
• [38]Van der Beek NAME, De Vries JM, Hagemans MLC, Hop WCJ, Kroos MA, Wokke JHJ et al.. Clinical features and predictors for disease natural progression in adults with Pompe disease: A nationwide prospective observational study. Orphanet J Rare Dis. 2012; 7:88. BioMed Central Full Text
• [39]Hughes DA, Tunnage B, Yeo ST. Drugs for exceptionally rare diseases: Do they deserve special status for funding? QJM. 2005; 98:829-36.
• [40]Güngör D, De Vries JM, Brusse E, Kruijshaar ME, Hop WCJ, Murawska M et al.. Enzyme replacement therapy and fatigue in adults with Pompe disease. Mol Genet Metab. 2013; 109:174-8.
• [41]Güngör D, Kruijshaar ME, Plug I, Rizopoulos D, Kanters TA, Wens SCA et al.. Quality of life and participation in the daily life activities of adults with Pompe disease receiving enzyme replacement therapy: 10 years of international follow-up. In: Survival, quality of life and effects of enzyme replacement therapy in adults with Pompe disease. Güngör D, editor. Ipskamp Drukkers, Enschede; 2013: p.111-23.
• [42]Toscano A, Schoser B. Enzyme replacement therapy in late-onset Pompe disease: A systematic literature review. J Neurol. 2013; 260:951-9.