Patient reported outcome measures in rare diseases: a narrative review

Development and validation of a primary sclerosing cholangitis-specific patient-reported outcomes instrument: The PSC PRO

(2018) Zobair M. Younossi et al.   HEPATOLOGY

Making Patients and Doctors Happier — The Potential of Patient-Reported Outcomes

(2017) Lisa S. Rotenstein et al.   NEW ENGLAND JOURNAL OF MEDICINE

A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network

(2017) Rebecca C. Spillmann et al.   Orphanet Journal of Rare Diseases

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

(2017) Thomas Morel et al.   Orphanet Journal of Rare Diseases

Patient-Reported Outcome and Observer-Reported Outcome Assessment in Rare Disease Clinical Trials: An ISPOR COA Emerging Good Practices Task Force Report

(2017) Katy Benjamin et al.   VALUE IN HEALTH

Using Patient-Reported Outcome Measures (PROMs) to promote quality of care and safety in the management of patients with Advanced Chronic Kidney disease (PRO-trACK project): a mixed-methods project protocol

(2017) Olalekan Lee Aiyegbusi et al.   BMJ Open

Health-related quality of life in children with chronic immune thrombocytopenia in China

(2016) Heng Zhang et al.   Health and Quality of Life Outcomes

Clinical validity of PROMIS Depression, Anxiety, and Anger across diverse clinical samples

(2016) Benjamin D. Schalet et al.   JOURNAL OF CLINICAL EPIDEMIOLOGY

Symptom Monitoring With Patient-Reported Outcomes During Routine Cancer Treatment: A Randomized Controlled Trial

(2016) Ethan Basch et al.   JOURNAL OF CLINICAL ONCOLOGY

Reflections on the national patient-reported outcome measures (PROMs) programme: Where do we go from here?

(2016) Derek Kyte et al.   JOURNAL OF THE ROYAL SOCIETY OF MEDICINE

How to select outcome measurement instruments for outcomes included in a “Core Outcome Set” – a practical guideline

(2016) Cecilia A. C. Prinsen et al.   Trials

A comprehensive global genotype-phenotype database for rare diseases

(2016) Daniel Trujillano et al.   Molecular Genetics & Genomic Medicine

Patient-reported outcomes in routine cancer clinical practice: a scoping review of use, impact on health outcomes, and implementation factors

(2015) D. Howell et al.   ANNALS OF ONCOLOGY

Socio-economic burden of rare diseases: A systematic review of cost of illness evidence

(2015) Aris Angelis et al.   HEALTH POLICY

Patient-Reported Outcomes as a Measure of Healthcare Quality

(2015) Dominick L. Frosch   JOURNAL OF GENERAL INTERNAL MEDICINE

Putting patient-reported outcomes on the ‘Big Data Road Map’

(2015) Melanie Calvert et al.   JOURNAL OF THE ROYAL SOCIETY OF MEDICINE

The Role of Technical Advances in the Adoption and Integration of Patient-reported Outcomes in Clinical Care

(2015) Roxanne E. Jensen et al.   MEDICAL CARE

Quality of life in patients with Fabry disease: a systematic review of the literature

(2015) Maarten Arends et al.   Orphanet Journal of Rare Diseases

Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries

(2015) Annet M Bosch et al.   Orphanet Journal of Rare Diseases

Development and psychometric validation of measures to assess the impact of phenylketonuria and its dietary treatment on patients’ and parents’ quality of life: the phenylketonuria – quality of life (PKU-QOL) questionnaires

(2015) Antoine Regnault et al.   Orphanet Journal of Rare Diseases

Patient-Reported Physical Function Outcome Measure for Adults With Fibrodysplasia Ossificans Progressiva: Intelligent Test Design Based on Promis Item Banks

(2015) M.S. Mattera et al.   VALUE IN HEALTH

Patient-Reported Outcomes in Cancer Drug Development and US Regulatory Review

(2015) Ethan Basch et al.   JAMA Oncology

Reconstructing the Rasch-Built Myotonic Dystrophy Type 1 Activity and Participation Scale

(2015) Mieke C. E. Hermans et al.   PLoS One

Patient-Reported Outcomes in Clinical Trials of Rare Diseases

(2014) Ethan Basch et al.   JOURNAL OF GENERAL INTERNAL MEDICINE

Patient-Reported Outcomes Measurement Information System (PROMIS): Efficient, standardized tools to measure self-reported health and quality of life

(2014) Margaret Bevans et al.   NURSING OUTLOOK

Development and Validation of Quality-of-Life Questionnaires for Birdshot Chorioretinopathy

(2014) John A. Barry et al.   OPHTHALMOLOGY

Burden of disease in patients with Morquio A syndrome: results from an international patient-reported outcomes survey

(2014) Christian J Hendriksz et al.   Orphanet Journal of Rare Diseases

Patient-Reported Outcome (PRO) Assessment in Clinical Trials: A Systematic Review of Guidance for Trial Protocol Writers

(2014) Melanie Calvert et al.   PLoS One

Using quantitative methods within the Universalist model framework to explore the cross-cultural equivalence of patient-reported outcome instruments

(2014) Antoine Regnault et al.   QUALITY OF LIFE RESEARCH

Health-related quality of life for children with rare diagnoses, their parents’ satisfaction with life and the association between the two

(2013) Heidi Johansen et al.   Health and Quality of Life Outcomes

Rasch analysis of clinical outcome measures in spinal muscular atrophy

(2013) Stefan J. Cano et al.   MUSCLE & NERVE

The European KIDSCREEN approach to measure quality of life and well-being in children: development, current application, and future advances

(2013) Ulrike Ravens-Sieberer et al.   QUALITY OF LIFE RESEARCH

Patient reported outcome measures could help transform healthcare

(2013) N. Black   BMJ-British Medical Journal

Measuring patient experiences in Fabry disease: validation of the Fabry-specific Pediatric Health and Pain Questionnaire (FPHPQ)

(2012) Uma Ramaswami et al.   Health and Quality of Life Outcomes

The Rasch-built Pompe-specific Activity (R-PAct) scale

(2012) N.A.M.E. van der Beek et al.   NEUROMUSCULAR DISORDERS

A Double-Blind, Placebo-Controlled Trial of Ruxolitinib for Myelofibrosis

(2012) Srdan Verstovsek et al.   NEW ENGLAND JOURNAL OF MEDICINE

Evaluating the serial use of the myelofibrosis symptom assessment form for measuring symptomatic improvement

(2011) Ruben A. Mesa et al.   CANCER

Rating the methodological quality in systematic reviews of studies on measurement properties: a scoring system for the COSMIN checklist

(2011) Caroline B. Terwee et al.   QUALITY OF LIFE RESEARCH

Quality of life in rare genetic conditions: A systematic review of the literature

(2010) Julie S. Cohen et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The COSMIN checklist for evaluating the methodological quality of studies on measurement properties: A clarification of its content

(2010) Lidwine B Mokkink et al.   BMC Medical Research Methodology

Patient-reported outcome measures in the NHS: new methods for analysing and reporting EQ-5D data

(2010) Nancy J. Devlin et al.   HEALTH ECONOMICS

Adverse Symptom Event Reporting by Patients vs Clinicians: Relationships With Clinical Outcomes

(2009) Ethan Basch et al.   JNCI-Journal of the National Cancer Institute

Use of patient-reported outcomes in clinical practice

(2009) Claire F Snyder et al.   LANCET

The Myelofibrosis Symptom Assessment Form (MFSAF): An evidence-based brief inventory to measure quality of life and symptomatic response to treatment in myelofibrosis

(2009) Ruben A. Mesa et al.   LEUKEMIA RESEARCH

Improving patient outcomes through the routine use of patient-reported data in cancer clinics: future directions

(2009) T. Luckett et al.   PSYCHO-ONCOLOGY

Multinational Trials—Recommendations on the Translations Required, Approaches to Using the Same Language in Different Countries, and the Approaches to Support Pooling the Data: The ISPOR Patient-Reported Outcomes Translation and Linguistic Validation Good Research Practices Task Force Report

(2008) Diane Wild et al.   VALUE IN HEALTH