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ASPECTS OF PATIENT REPORTED OUTCOMES IN RARE DISEASES: A DISCUSSION PAPER

Part of: Special Collection - Methods

Published online by Cambridge University Press:  15 August 2016

Alric Rüther ,
Deborah Elstein ,
Durhane Wong-Rieger  and
Gordon Guyatt
Alric Rüther
Affiliation:
Institut für Qualität und Wirtschaftlichkeit im Gesundheitswesen (IQWiG)alric.ruether@iqwig.de
Deborah Elstein
Affiliation:
Shaare Zedek Medical Center
Durhane Wong-Rieger
Affiliation:
Canadian Organization for Rare Disorders, Toronto
Gordon Guyatt
Affiliation:
McMaster University, Faculty of Health Sciences, Clinical Epidemiology and Biostatistics
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Abstract

Objectives: A patient reported outcome (PRO) is “any report of the status of a patient's health condition that comes directly from the patient without interpretation of the patient's response by a clinician or anyone else” (USFDA 2009). PROs are discussed widely, and many regard the patients’ perspective on treatment benefit as very valuable. Although many PROs have shown satisfactory measurement properties including reliability, validity, and responsiveness, there is great concern about risk of bias, that is, in clinical trials.

Methods: Differences in perspectives of PRO measurement in rare diseases are given arising from methodology, clinical, HTA, and patient advocacy views.

Results: PROs are playing an important role in dealing with treatment benefit especially in small sample size as occurring often in rare diseases. Challenges remain especially regarding lack of responsiveness of generic measures, limited capture of all patient relevant aspects, study design and high risk of bias.

Conclusions: PROs seem a valuable instrument to detect patient relevant aspects in rare diseases. They should be seen in addition to other approved assessment methods as randomized controlled trials but not as their substitute.

Keywords

Patient reported outcomesRare diseaseHealth technology assessment (HTA)Health-related quality of life (HRQoL)Minimally important difference (MID)
Type
Methods
Information
International Journal of Technology Assessment in Health Care , Volume 32 , Issue 3 , 2016 , pp. 126 - 130
Copyright
Copyright © Cambridge University Press 2016 

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References

REFERENCES

1. US Department of Health and Human Services Food and Drug Administration: Patient-Reported Outcome Measures: Use in Medical Product Development to Support Labeling Claims. Guidance For Industry; 2009. http://www.fda.gov/downloads/Drugs/GuidanceComplianceRegulatoryInformation/Guidances/UCM193282.pdf (accessed November 23, 2015).Google Scholar
2. Wiebe, S, Guyatt, GH, Weaver, B, Matijevic, S, Sidwell, C. Comparative responsiveness of generic and specific quality of life instruments. J Clin Epidemiol. 2003;56:52-60.Google Scholar
3. Arnould, B, Perrier, L-L, Acuadro, C. Patient-reported Outcome (PRO) claims in products indicated for the treatment of rare diseases and approved by the European Medicines Agency (EMA); The European Conference on Rare Diseases & Orphan Products (ERCD) 2014. Value Health. 2014;17:A231–A232.Google Scholar
4. National Institute for Health and Care Excellence (NICE). Guide of the methods of technology appraisal, §5.3.1, 2013. https://www.nice.org.uk/article/pmg9/chapter/5-The-reference-case#measuring-and-valuing-health-effects (accessed November 23, 2015).Google Scholar
5. Richardson, J, Iezzi, A, Khan, M, Maxwell, A. Subjective wellbeing, utility and quality of life: Results from the Multi Instrument Comparison (MIC) project. 2013. http://www.aqol.com.au/documents/MIC/Subjective_Wellbeing_Brochure_V8.pdf; 2013 (accessed November 23, 2015).Google Scholar
6. Longworth, L, Rowen, D. Mapping to obtain EQ-5D utility values for use in NICE HTA. Value Health. 2013;16:202-210.Google Scholar
7. Pavlovic, M. Impact of the HRQoL on the HTA process in France 23rd annual EuroMeeting of the Drug Information Association 2011. Pharm Med. 2011;25;161-166.Google Scholar
8. European Network for Health Technology Assessment (EUnetHTA). Guideline: Endpoints used for relative effectiveness assessment of pharmaceuticals: Health Related Quality of Life and Utility Measures. February 2013. http://5026.fedimbo.belgium.be/sites/5026.fedimbo.belgium.be/files/Health-related%20quality%20of%20life.pdf (accessed November 23, 2015).Google Scholar
9. Institute for Quality and Efficiency in Health Care (IQWiG). General Methods 4.2 (English version) 2015. https://www.iqwig.de/en/methods/methods_papers/general_methods.3020.html (accessed November 23, 2015).Google Scholar
10. Klaassen, RJ, Barrowman, N, Merelles-Pulcini, M, et al. Validation and reliability of a disease-specific quality of life measure (the TranQol) in adults and children with thalassaemia major. Br J Haematol. 2014;164:431-437.Google Scholar
11. Raluy-Callado, M, Chen, WH, Whiteman, D, 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.Google Scholar