Measuring what matters to rare disease patients – reflections on the work by the IRDiRC taskforce on patient-centered outcome measures

Morel, Thomas; Cano, Stefan

doi:10.1186/s13023-017-0718-x

Cited by 132 publications

(171 citation statements)

References 63 publications

(43 reference statements)

Supporting

Mentioning

167

Contrasting

Order By: Relevance

“…Chronic pain and impact on mental health are proposed to capture the entire spectrum of the impact of gene therapy as a definitive cure (as such, with a huge potential for transforming the patient experience) for the functional and social impact of haemophilia. These outcomes will inform a value-based approach, 14 along with measurement of direct healthcare resource use. Second, one might argue a core set would better serve a disease than a treatment and therefore be more impactful if built to allow comparison of all available treatments.…”

Section: Re Sultsmentioning

confidence: 99%

Core outcome set for gene therapy in haemophilia: Results of the coreHEM multistakeholder project

et al. 2018

View full text Add to dashboard Cite

For the first time in haemophilia, a core outcome set has been developed, with the involvement of representatives of all relevant stakeholder groups. The core set has been expanded to include outcomes supporting assessment of comparative effectiveness and value, with the goal of streamlining regulatory approval, health technology assessment and market access decisions. Patient involvement ensures that outcomes are meaningful and relevant to those living with haemophilia. Active dialogue among drug developers, regulators and payers throughout the process is expected to facilitate broad uptake of the core outcomes in forthcoming clinical trials.

show abstract

Section: Re Sultsmentioning

confidence: 99%

Core outcome set for gene therapy in haemophilia: Results of the coreHEM multistakeholder project

et al. 2018

View full text Add to dashboard Cite

show abstract

“…Standardized PRO sets are recognized as enabling population comparisons, which are of value to comparative processes such as HTA assessment, in addition to making efficient use of resources (Table ) . However, experience of a specific patient population may not be reflected in a standardized measure . Where a PRO measure does not reflect the patient experience in question, the choice is whether to adapt an existing measure with the same concept, to combine validated generic and disease‐specific measures in a trial or to develop a new measure .…”

Section: The Patient and Patient Advocate Contributionmentioning

confidence: 99%

“…However, experience of a specific patient population may not be reflected in a standardized measure . Where a PRO measure does not reflect the patient experience in question, the choice is whether to adapt an existing measure with the same concept, to combine validated generic and disease‐specific measures in a trial or to develop a new measure . An example of a PRO measure developed for a specific population is outlined in Table .…”

Section: The Patient and Patient Advocate Contributionmentioning

confidence: 99%

Including the patient voice in the development and implementation of patient‐reported outcomes in cancer clinical trials

Addario

Geißler²,

Horn³

et al. 2019

Health Expectations

View full text Add to dashboard Cite

Portfolio Chair 4 | Deborah Maskens MA, MSM, Vice Chair 5 | Kathy Oliver BA, Chair and Co-Director 6 | Ananda Plate Chief Executive Officer 7 | Erin Schwartz MSW, VP of Global Engagement 8 | Nicole Willmarth PhD, Chief Mission Officer 9This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. Abstract Context: Patient-reported outcomes (PROs) are used in parallel with clinical evidence to inform decisions made by industry, clinicians, regulators, health technology assessment bodies and other health-care decision-makers. In addition, PRO data can also guide shared decision making and individual patient choice. Yet, the quality of many PROs in cancer clinical trials is suboptimal and requires improvement to add value to health care and policy decision making. Objective: To show how the integration of the patient and/or patient advocate at all stages of PRO development can help to realize the full potential of PROs. Methods: We examined the literature to show that the patient voice is often absent from the planning and implementation of PROs in cancer clinical trials. Good practice examples from the literature were combined with guideline recommendations, training or educational resources, and our own experience to create detailed practical steps for the inclusion of patients and/or patient advocates throughout PRO development.Results: Patient or patient advocates can play an active role in shaping PROs that are meaningful to the patient. They can contribute to content, choice of medium and implementation in a way that may support PRO completion and minimize missing data. Patients and their advocates can work to ensure PRO findings are disseminated appropriately in a way that is accessible to patients. Conclusion:This practical guidance aims to optimize PRO development and implementation in clinical trials, resulting in robust, relevant data that reflect the patient experience and that support decisions made by all stakeholders involved in research and health care.

show abstract

“…However, there have only been a few attempts to validate these self‐report questionnaires of photoprotection against objective measures of UVR exposure . A key issue for the use of these questionnaires in populations that require rigorous photoprotection, such as XP, is that they are unlikely to be sensitive to the detection of small but important differences in photoprotection practices, particularly in clinically important areas such as the face . The only existing tool for use in XP patients is clinician‐reported and has not been psychometrically validated .…”

Section: Introductionmentioning

confidence: 99%

“…11,14,18,19 A key issue for the use of these questionnaires in populations that require rigorous photoprotection, such as XP, is that they are unlikely to be sensitive to the detection of small but important differences in photoprotection practices, particularly in clinically important areas such as the face. 20,21 The only existing tool for use in XP patients is clinician-reported and has not been psychometrically validated. 22 As such, there is a need to develop and validate a new self-report questionnaire for people with XP.…”

Section: Introductionmentioning

confidence: 99%

Facial photoprotection in xeroderma pigmentosum (XP) patients: Validation of a new self‐reported questionnaire of adherence

Canfield

Norton

Walburn

et al. 2019

Photoderm Photoimm Photomed

View full text Add to dashboard Cite

Background/Purpose Adherence to photoprotection is the only way to prevent skin cancers and eye disease in xeroderma pigmentosum (XP). No validated self‐report questionnaire exists for assessing adherence to photoprotection practices in individuals with XP. We sought to validate a self‐reported measure of adherence to face photoprotection in this population. Methods Sixty six XP patients recruited from the patient list of the XP specialist service in London, UK, completed a questionnaire of adherence to specific photoprotection behaviours. We measured objective ultraviolet radiation (UVR) exposure to the face continuously for 21 days with a wristworn UVR electronic dosimeter combined with a daily photoprotection diary. Reliability and convergent validity of the questionnaire were tested in relation to overall UVR exposure, UVR dose to the face, daily photoprotection activities, other self‐reported photoprotection practices and clinical ratings of patient's protection. Results Internal consistency of the questionnaire was satisfactory. Questionnaire total scores were concordant with objective UVR exposure and UVR dose to the face. However, not all participants who reported good/excellent face photoprotection on the questionnaire recorded high levels of photoprotection in the daily diary. Correlations between the questionnaire and other practices and the clinical rating ranged from small to large in size. There was no correlation between the level of face photoprotection and self‐reported avoidance of going outside. Conclusions Our questionnaire was reliable and had good convergent validity with other indicators of photoprotection. This questionnaire could assist clinicians to detect low levels of adherence, and the methodology used to develop validated questionnaires for other photosensitive conditions.

show abstract

Measuring what matters to rare disease patients – reflections on the work by the IRDiRC taskforce on patient-centered outcome measures

Cited by 132 publications

References 63 publications

Core outcome set for gene therapy in haemophilia: Results of the coreHEM multistakeholder project

Core outcome set for gene therapy in haemophilia: Results of the coreHEM multistakeholder project

Including the patient voice in the development and implementation of patient‐reported outcomes in cancer clinical trials

Facial photoprotection in xeroderma pigmentosum (XP) patients: Validation of a new self‐reported questionnaire of adherence

Contact Info

Product

Resources

About