The Use of Patient-Reported Outcome Measures in Rare Diseases and Implications for Health Technology Assessment

Background Patient-reported outcome measures (PROMs) are used in health technology assessment (HTA) to measure patient experiences with disease and treatment, allowing a deeper understanding of treatment impact beyond clinical endpoints. Developing and administering PROMs for rare diseases poses uni...

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Vydáno v:The patient : patient-centered outcomes research Ročník 14; číslo 5; s. 485 - 503
Hlavní autoři: Whittal, Amanda, Meregaglia, Michela, Nicod, Elena
Médium: Journal Article
Jazyk:angličtina
Vydáno: Cham Springer International Publishing 01.09.2021
Springer Nature B.V
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ISSN:1178-1653, 1178-1661, 1178-1661
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Abstract Background Patient-reported outcome measures (PROMs) are used in health technology assessment (HTA) to measure patient experiences with disease and treatment, allowing a deeper understanding of treatment impact beyond clinical endpoints. Developing and administering PROMs for rare diseases poses unique challenges because of small patient populations, disease heterogeneity, lack of natural history knowledge, and short-term studies. Objective This research aims to identify key factors to consider when using different types of PROMs in HTA for rare disease treatments (RDTs). Methods A scoping review of scientific and grey literature was conducted, with no date or publication type restrictions. Information on the advantages of and the challenges and potential solutions when using different types of PROMs for RDTs, including psychometric properties, was extracted and synthesized. Results Of 79 records from PubMed, 32 were included, plus 12 records from the grey literature. PROMs for rare diseases face potential data collection and psychometric challenges resulting from small patient populations and disease heterogeneity. Generic PROMs are comparable across diseases but not sensitive to disease specificities. Disease-specific instruments are sensitive but do not exist for many rare diseases and rarely provide the utility values required by some HTA bodies. Creating new PROMs is time and resource intensive. Potential solutions include pooling data (multi-site/international data collection), using computer-assisted technology, or using generic and disease-specific PROMs in a complementary way. Conclusions PROMs are relevant in HTA for RDTs but pose a number of difficulties. A deeper understanding of the potential advantages of and the challenges and potential solutions for each can help manage these difficulties.
AbstractList Background Patient-reported outcome measures (PROMs) are used in health technology assessment (HTA) to measure patient experiences with disease and treatment, allowing a deeper understanding of treatment impact beyond clinical endpoints. Developing and administering PROMs for rare diseases poses unique challenges because of small patient populations, disease heterogeneity, lack of natural history knowledge, and short-term studies. Objective This research aims to identify key factors to consider when using different types of PROMs in HTA for rare disease treatments (RDTs). Methods A scoping review of scientific and grey literature was conducted, with no date or publication type restrictions. Information on the advantages of and the challenges and potential solutions when using different types of PROMs for RDTs, including psychometric properties, was extracted and synthesized. Results Of 79 records from PubMed, 32 were included, plus 12 records from the grey literature. PROMs for rare diseases face potential data collection and psychometric challenges resulting from small patient populations and disease heterogeneity. Generic PROMs are comparable across diseases but not sensitive to disease specificities. Disease-specific instruments are sensitive but do not exist for many rare diseases and rarely provide the utility values required by some HTA bodies. Creating new PROMs is time and resource intensive. Potential solutions include pooling data (multi-site/international data collection), using computer-assisted technology, or using generic and disease-specific PROMs in a complementary way. Conclusions PROMs are relevant in HTA for RDTs but pose a number of difficulties. A deeper understanding of the potential advantages of and the challenges and potential solutions for each can help manage these difficulties.
Patient-reported outcome measures (PROMs) are used in health technology assessment (HTA) to measure patient experiences with disease and treatment, allowing a deeper understanding of treatment impact beyond clinical endpoints. Developing and administering PROMs for rare diseases poses unique challenges because of small patient populations, disease heterogeneity, lack of natural history knowledge, and short-term studies. This research aims to identify key factors to consider when using different types of PROMs in HTA for rare disease treatments (RDTs). A scoping review of scientific and grey literature was conducted, with no date or publication type restrictions. Information on the advantages of and the challenges and potential solutions when using different types of PROMs for RDTs, including psychometric properties, was extracted and synthesized. Of 79 records from PubMed, 32 were included, plus 12 records from the grey literature. PROMs for rare diseases face potential data collection and psychometric challenges resulting from small patient populations and disease heterogeneity. Generic PROMs are comparable across diseases but not sensitive to disease specificities. Disease-specific instruments are sensitive but do not exist for many rare diseases and rarely provide the utility values required by some HTA bodies. Creating new PROMs is time and resource intensive. Potential solutions include pooling data (multi-site/international data collection), using computer-assisted technology, or using generic and disease-specific PROMs in a complementary way. PROMs are relevant in HTA for RDTs but pose a number of difficulties. A deeper understanding of the potential advantages of and the challenges and potential solutions for each can help manage these difficulties.
Background Patient-reported outcome measures (PROMs) are used in health technology assessment (HTA) to measure patient experiences with disease and treatment, allowing a deeper understanding of treatment impact beyond clinical endpoints. Developing and administering PROMs for rare diseases poses unique challenges because of small patient populations, disease heterogeneity, lack of natural history knowledge, and short-term studies. Objective This research aims to identify key factors to consider when using different types of PROMs in HTA for rare disease treatments (RDTs). Methods A scoping review of scientific and grey literature was conducted, with no date or publication type restrictions. Information on the advantages of and the challenges and potential solutions when using different types of PROMs for RDTs, including psychometric properties, was extracted and synthesized. Results Of 79 records from PubMed, 32 were included, plus 12 records from the grey literature. PROMs for rare diseases face potential data collection and psychometric challenges resulting from small patient populations and disease heterogeneity. Generic PROMs are comparable across diseases but not sensitive to disease specificities. Disease-specific instruments are sensitive but do not exist for many rare diseases and rarely provide the utility values required by some HTA bodies. Creating new PROMs is time and resource intensive. Potential solutions include pooling data (multi-site/international data collection), using computer-assisted technology, or using generic and disease-specific PROMs in a complementary way. Conclusions PROMs are relevant in HTA for RDTs but pose a number of difficulties. A deeper understanding of the potential advantages of and the challenges and potential solutions for each can help manage these difficulties.
Patient-reported outcome measures (PROMs) are used in health technology assessment (HTA) to measure patient experiences with disease and treatment, allowing a deeper understanding of treatment impact beyond clinical endpoints. Developing and administering PROMs for rare diseases poses unique challenges because of small patient populations, disease heterogeneity, lack of natural history knowledge, and short-term studies.BACKGROUNDPatient-reported outcome measures (PROMs) are used in health technology assessment (HTA) to measure patient experiences with disease and treatment, allowing a deeper understanding of treatment impact beyond clinical endpoints. Developing and administering PROMs for rare diseases poses unique challenges because of small patient populations, disease heterogeneity, lack of natural history knowledge, and short-term studies.This research aims to identify key factors to consider when using different types of PROMs in HTA for rare disease treatments (RDTs).OBJECTIVEThis research aims to identify key factors to consider when using different types of PROMs in HTA for rare disease treatments (RDTs).A scoping review of scientific and grey literature was conducted, with no date or publication type restrictions. Information on the advantages of and the challenges and potential solutions when using different types of PROMs for RDTs, including psychometric properties, was extracted and synthesized.METHODSA scoping review of scientific and grey literature was conducted, with no date or publication type restrictions. Information on the advantages of and the challenges and potential solutions when using different types of PROMs for RDTs, including psychometric properties, was extracted and synthesized.Of 79 records from PubMed, 32 were included, plus 12 records from the grey literature. PROMs for rare diseases face potential data collection and psychometric challenges resulting from small patient populations and disease heterogeneity. Generic PROMs are comparable across diseases but not sensitive to disease specificities. Disease-specific instruments are sensitive but do not exist for many rare diseases and rarely provide the utility values required by some HTA bodies. Creating new PROMs is time and resource intensive. Potential solutions include pooling data (multi-site/international data collection), using computer-assisted technology, or using generic and disease-specific PROMs in a complementary way.RESULTSOf 79 records from PubMed, 32 were included, plus 12 records from the grey literature. PROMs for rare diseases face potential data collection and psychometric challenges resulting from small patient populations and disease heterogeneity. Generic PROMs are comparable across diseases but not sensitive to disease specificities. Disease-specific instruments are sensitive but do not exist for many rare diseases and rarely provide the utility values required by some HTA bodies. Creating new PROMs is time and resource intensive. Potential solutions include pooling data (multi-site/international data collection), using computer-assisted technology, or using generic and disease-specific PROMs in a complementary way.PROMs are relevant in HTA for RDTs but pose a number of difficulties. A deeper understanding of the potential advantages of and the challenges and potential solutions for each can help manage these difficulties.CONCLUSIONSPROMs are relevant in HTA for RDTs but pose a number of difficulties. A deeper understanding of the potential advantages of and the challenges and potential solutions for each can help manage these difficulties.
Author Meregaglia, Michela
Whittal, Amanda
Nicod, Elena
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BackLink https://www.ncbi.nlm.nih.gov/pubmed/33462774$$D View this record in MEDLINE/PubMed
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RowenDBrazierJAraRAzzabiIRowenDThe role of condition-specific preference-based measures in health technology assessmentPharmacoeconomics201735s1334110.1007/s40273-017-0546-929052164
MeregagliaMWhittalANicodEDrummondMMapping’ health state utility values from non-preference-based measures: a systematic literature review in rare diseasesPharmacoeconomics202010.1007/s40273-020-00897-432152892
WhittyJAPatient preferences in the medical product lifecyclePatient202013171010.1007/s40271-019-00400-y31782120
WildDPrinciples of good practice for the translation and cultural adaptation process for patient-reported outcomes (PRO) measures: Report of the ISPOR Task Force for Translation and Cultural AdaptationValue Health2005829410410.1111/j.1524-4733.2005.04054.x15804318
MorelTAyméSCassimanDSimoensSMorganMVandebroekMQuantifying benefit-risk preferences for new medicines in rare disease patients and caregiversOrphanet J Rare Dis201611111210.1186/s13023-016-0444-9
LanarSAcquadroCSeatonJSavreIArnouldBTo what degree are orphan drugs patient-centered? A review of the current state of clinical research in rare diseasesOrphanet J Rare Dis.20201511810.1186/s13023-020-01400-0
PascoalCPatient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: A SCOPING reviewOrphanet J Rare Dis201810.1186/s13023-018-0953-9304868336263554
GounderMMMadduxLAPatyJAtkinsonTMProspective development of a patient-reported outcomes instrument for desmoid tumors or aggressive fibromatosisCancer2020126353153910.1002/cncr.3255531691276
Mapi Research Trust. ePROVIDE Online Support in Clinical Outcome Assessments. https://eprovide.mapi-trust.org/search?form[searchText]=&form[ezxform_token]=vm5mY6mwXBfdtdI8lIZbV5vT3P8YndbDBnIiXAa3gLI. Accessed 20 Nov 2019.
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BaschEBennettAVPatient-reported outcomes in clinical trials of rare diseasesJ Gen Intern Med201429SUPPL. 380180310.1007/s11606-014-2892-z4124120
ChalasaniMVaidyaPMullinTEnhancing the incorporation of the patient’s voice in drug development and evaluationRes Invol Engag201841010.1186/s40900-018-0093-3
NoëlETreatment needs and expectations for Fabry disease in France: Development of a new Patient Needs QuestionnaireOrphanet J Rare Dis201914111010.1186/s13023-019-1254-7
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U.S. Department of Health and Human Services, Food and Drug Administration, Center for Drug Evaluation and Research, Center for Biologics Evaluation and Research. In: Patient-focused drug development: collecting comprehensive and representative input. Silver Spring, MD; 2018.
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BrazierJAraRRowenDChevrou-SeveracHA review of generic preference-based measures for use in cost-effectiveness modelsPharmacoeconomics201735s1213110.1007/s40273-017-0545-x29052157
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– reference: WittSPsychometric properties and minimal important differences of SF-36 in Idiopathic Pulmonary FibrosisRespir Res201920111110.1186/s12931-019-1010-5
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Snippet Background Patient-reported outcome measures (PROMs) are used in health technology assessment (HTA) to measure patient experiences with disease and treatment,...
Patient-reported outcome measures (PROMs) are used in health technology assessment (HTA) to measure patient experiences with disease and treatment, allowing a...
Background Patient-reported outcome measures (PROMs) are used in health technology assessment (HTA) to measure patient experiences with disease and treatment,...
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StartPage 485
SubjectTerms Data collection
Disease
Health Administration
Health Economics
Health technology assessment
Humans
Medicine
Medicine & Public Health
Patient Reported Outcome Measures
Patients
Pharmacoeconomics and Health Outcomes
Preferences
Psychometrics
Public Health
Quality of Life
Quality of Life Research
Quantitative psychology
Questionnaires
Rare diseases
Rare Diseases - therapy
Review
Review Article
Technology Assessment, Biomedical
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Title The Use of Patient-Reported Outcome Measures in Rare Diseases and Implications for Health Technology Assessment
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