Disease-specific Patient-reported Outcome Measures Research Articles

Advanced translation and cultural adaption of the LYMPH-Q Upper Extremity Module from English to Danish

BackgroundTo better quantify the impact that breast cancer-related arm lymphedema (BCRL) has on health-related quality of life (HR-QOL), a disease-specific patient-reported outcome measure (PROM) is needed. The LYMPH-Q Upper Extremity Module was recently developed for patients with BCRL. The aim of this study was to perform an advanced translation and culturally adapt the LYMPH-Q Upper Extremity Module for use in Denmark.MethodsThe LYMPH-Q Upper Extremity Module was translated into Danish according to the guidelines of the International Society for Pharmacoeconomics and Outcomes Research (ISPOR) and the World Health Organization (WHO). The process included two forward and one back translation, an expert panel meeting, and cognitive debriefing interviews with patients. The focus of the translation was to develop a Danish version that used appropriate patient-friendly language while maintaining the meaning of the items, instructions and response options.ResultsThe two forward translations resulted in minor differences in terminology. These discrepancies were discussed among the translators and a harmonized Danish version 1 was achieved. Comparison of the back translation to the original English version identified 14 items/instructions/response options that required re-translation. Subsequently, experts helped to identify and resolve the language for 10 items/instructions/response options that did not maintain the same meaning as the English version. Participants in the cognitive debriefing interviews did not report any difficulties with understanding the items/instructions/response options.ConclusionsThe translation and cultural adaption process led to the development of a conceptually equivalent Danish version of the LYMPH-Q Upper Extremity Module.Level of Evidence: Not gradable

Remote Assessment of Lung Disease and Impact on Physical and Mental Health (RALPMH): Protocol for a Prospective Observational Study.

BackgroundChronic lung disorders like chronic obstructive pulmonary disease (COPD) and idiopathic pulmonary fibrosis (IPF) are characterized by exacerbations. They are unpleasant for patients and sometimes severe enough to cause hospital admission and death. Moreover, due to the COVID-19 pandemic, vulnerable populations with these disorders are at high risk, and their routine care cannot be done properly. Remote monitoring offers a low cost and safe solution for gaining visibility into the health of people in their daily lives, making it useful for vulnerable populations.ObjectiveThe primary objective is to assess the feasibility and acceptability of remote monitoring using wearables and mobile phones in patients with pulmonary diseases. The secondary objective is to provide power calculations for future studies centered around understanding the number of exacerbations according to sample size and duration.MethodsTwenty participants will be recruited in each of three cohorts (COPD, IPF, and posthospitalization COVID). Data collection will be done remotely using the RADAR-Base (Remote Assessment of Disease And Relapse) mobile health (mHealth) platform for different devices, including Garmin wearable devices and smart spirometers, mobile app questionnaires, surveys, and finger pulse oximeters. Passive data include wearable-derived continuous heart rate, oxygen saturation, respiration rate, activity, and sleep. Active data include disease-specific patient-reported outcome measures, mental health questionnaires, and symptom tracking to track disease trajectory. Analyses will assess the feasibility of lung disorder remote monitoring (including data quality, data completeness, system usability, and system acceptability). We will attempt to explore disease trajectory, patient stratification, and identification of acute clinical events such as exacerbations. A key aspect is understanding the potential of real-time data collection. We will simulate an intervention to acquire responses at the time of the event to assess model performance for exacerbation identification.ResultsThe Remote Assessment of Lung Disease and Impact on Physical and Mental Health (RALPMH) study provides a unique opportunity to assess the use of remote monitoring in the evaluation of lung disorders. The study started in the middle of June 2021. The data collection apparatus, questionnaires, and wearable integrations were setup and tested by the clinical teams prior to the start of recruitment. While recruitment is ongoing, real-time exacerbation identification models are currently being constructed. The models will be pretrained daily on data of previous days, but the inference will be run in real time.ConclusionsThe RALPMH study will provide a reference infrastructure for remote monitoring of lung diseases. It specifically involves information regarding the feasibility and acceptability of remote monitoring and the potential of real-time data collection and analysis in the context of chronic lung disorders. It will help plan and inform decisions in future studies in the area of respiratory health.Trial RegistrationISRCTN Registry ISRCTN16275601; https://www.isrctn.com/ISRCTN16275601International Registered Report Identifier (IRRID)PRR1-10.2196/28873

Fundamentals of osteoarthritis: outcome evaluation with patient-reported measures and functional tests

Evaluating outcome in osteoarthritis (OA) clinical research and practice requires reliable, valid and responsive patient-reported outcome measures (PROMs) and functional tests that reflect important problems experienced by people with OA. The goal of this work is to provide information to start to guide the reader in selecting measures for people with OA. In this narrative review, we begin by providing an overview of measurement properties that can help clinicians and researchers in making decisions about whether a measure might be appropriate for use in their research or clinical context. We then report evidence supporting the use of measures of pain (e.g., Pain Visual Analogue (VAS), Numeric Pain Rating Scale (NPRS), Intermittent and Constant Osteoarthritis Pain, PROMIS Pain Interference, and, for screening in research, the painDETECT and the Self-report Leeds Assessment of Neuropathic Symptoms and Signs) and fatigue (e.g., PROMIS-Fatigue) at a group level in clinical research. Several multi-dimensional joint-specific measures (e.g., Western Ontario McMaster Universities' Osteoarthritis Outcomes Scale, Knee/Hip Injury and Osteoarthritis Outcome Score, Oxford Hip/Knee Scale) also have evidence for group-level use. Functional tests (e.g., timed walk tests, 30 Second Chair Stand, Timed Up and Go, etc.) have measurement properties supporting their use at the group level in clinical research and at the individual patient level as do the pain VAS and NPRS. Other generic and disease-specific PROMs have been used in or could be used in OA studies but their measurement properties require further evaluation in people with OA.

Validity, Responsiveness, and Reliability of the ACL-QOL in an Adolescent Population.

The anterior cruciate ligament quality of life (ACL-QOL) score is a disease-specific patient-reported outcome measure that assesses patients with ACL deficient and reconstructed knees. The ACL-QOL has demonstrated validity, responsiveness, and reliability in adult populations but has yet to be specifically evaluated in adolescent patients. The purpose of this study was to assess the validity, responsiveness, and reliability of the ACL-QOL in an adolescent population. Between 2010 and 2015, questionnaires from 294 consecutive adolescent patients consented for an ACL reconstruction were collected from an orthopaedic sport medicine clinic. The ACL-QOL was administered preoperatively, and at 6, 12, and 24 months following primary ACL reconstruction. To assess content validity, the Cronbach α and floor and ceiling effects were measured. Question reading level was measured with an online tool (https://readable.com/). Responsiveness was assessed with a 1-way analysis of variance to compare the preoperative and postoperative time periods. A test-retest strategy with completion of the ACL-QOL twice within 3 weeks was used to assess reliability using an intraclass correlation coefficient (ICC 2,k) and the SEM. The ACL-QOL demonstrated high content validity with a Cronbach αbetween 0.93 and 0.97, with no evidence of floor or ceiling effects at any study time point. The mean readability grade level was calculated to be 6.9, along with a readability score of 68. The ACL-QOL scores revealed a statistically significant improvement over time (P<0.001) with a Cohen d of 0.56, indicating a large effect size. Test-retest reliability revealed an ICC (2,k) of 0.997 (95% confidence interval=0.992-0.999). The ACL-QOL demonstrated content validity, responsiveness to change, and reliability in an adolescent ACL reconstruction population. The readability of the ACL-QOL is acceptable for adolescents with an ACL injury. The ACL-QOL is a valid, responsive, and reliable patient-reported outcome measure that can be used in an adolescent population with ACL deficiency or following ACL reconstruction. Level III.

Choosing patient-reported outcome measures for shoulder pathology.

This study was designed to identify the most frequent shoulder patient-reported outcome measures (PROMs) reported in high-quality literature.A systematic review was performed to identify shoulder PROMs, and their diffusion within the scientific literature was tested with a subsequent dedicated search in MEDLINE.506 studies were included in the final data analysis, for a total number of 36,553 patients.The Disabilities of the Arm, Shoulder and Hand questionnaire (DASH), the American Shoulder, Elbow Surgeons Score (ASES) and the Shoulder Pain and Disability Index (SPADI) were the most frequently reported PROMs in the analysed publications, with disease-specific PROMs being used with increasing frequency.A core set of outcome measures for future studies on patients with shoulder pathologies, based on the international acceptance and diffusion of each PROM, is needed.A combination of the DASH score for shoulder outcome assessment with more specific PROMs, such as the ASES for rotator cuff pathology and osteoarthritis and the SPADI for shoulder stiffness and shoulder pain of unspecified origin, is proposed as a recommended set of PROMs. Cite this article: EFORT Open Rev 2021;6:779-787. DOI: 10.1302/2058-5241.6.200109

Mapping the Edmonton Symptom Assessment System-Revised: Renal to the EQ-5D-5L in patients with chronic kidney disease.

The Edmonton Symptom Assessment System-Revised: Renal (ESAS-r: Renal) is a disease-specific patient-reported outcome measure (PROM) that assesses symptoms common in chronic kidney disease (CKD). There is no preference-based scoring system for the ESAS-r: Renal or a mapping algorithm to predict health utility values. We aimed to develop a mapping algorithm from the ESAS-r: Renal to the Canadian EQ-5D-5L index scores. We used data from a multi-centre cluster randomized-controlled trial of the routine measurement and reporting of PROMs in hemodialysis units in Northern Alberta, Canada. In two arms of the trial, both the ESAS-r: Renal and the EQ-5D-5L were administered to CKD patients undergoing hemodialysis. We used data from one arm for model estimation, and data from the other for validation. We explored direct and indirect mapping models; model selection was based on statistical fit and predictive power. Complete data were available for 506 patient records in the estimation sample and 242 in the validation sample. All models tended to perform better in patients with good health, and worse in those with poor health. Generalized estimating equations (GEE) and generalized linear model (GLM) on selected ESAS-r: Renal items were selected as final models as they fitted the best in estimation and validation sample. When only ESAS-r: Renal data are available, one could use GEE and GLM to predict EQ-5D-5L index scores for use in economic evaluation. External validation on populations with different characteristics is warranted, especially where renal-specific symptoms are more prevalent.

Current Recommendations for Patient-Reported Outcome Measures Assessing Domains of Quality of Life in Neurofibromatosis Clinical Trials.

To review and recommend patient-reported outcome (PRO) measures assessing multidimensional domains of quality of life (QoL) to use as clinical endpoints in medical and psychosocial trials for children and adults with neurofibromatosis (NF) type 1, NF2, and schwannomatosis. The PRO working group of the Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) International Collaboration used systematic methods to review, rate, and recommend existing self-report and parent-report PRO measures of generic and disease-specific QoL for NF clinical trials. Recommendations were based on 4 main criteria: patient characteristics, item content, psychometric properties, and feasibility. The highest-rated generic measures were (1) the Pediatric Quality of Life Inventory (PedsQL) Generic Core Scales for NF clinical trials for children or for children through adults, (2) the Functional Assessment of Cancer Therapy-General for adult medical trials, and (3) the World Health Organization Quality of Life-BREF for adult psychosocial trials. The highest-rated disease-specific measures were (1) the PedsQL NF1 Module for NF1 trials, (2) the NF2 Impact on Quality of Life Scale for NF2 trials, and (3) the Penn Acoustic Neuroma Quality of Life Scale for NF2 trials targeting vestibular schwannomas. To date, there are no disease-specific tools assessing multidimensional domains of QoL for schwannomatosis. The REiNS Collaboration currently recommends these generic and disease-specific PRO measures to assess multidimensional domains of QoL for NF clinical trials. Additional research is needed to further evaluate the use of these measures in both medical and psychosocial trials.

The Epworth Sleepiness Scale in epilepsy: Internal consistency and disease-related associations

BackgroundThe Epworth Sleepiness Scale (ESS) is the most common instrument for measuring subjective sleep propensity in people with epilepsy but has not yet been validated in this population. Study objectivesWe aimed to systematically assess the validity, performance, and internal consistency of the ESS, as well as correlations between the ESS and disease-specific variables and patient-reported outcome measures in a cohort of adults with epilepsy (AWE). MethodsNinety-five AWE completed sleep and seizure diaries, in-laboratory polysomnography (PSG) and patient-reported outcome measures, including the ESS, Insomnia Severity Index (ISI), and the Beck Depression Inventory (BDI). Demographic information and data from 95 matched controls referred for PSG for suspected obstructive sleep apnea (OSA) was taken from the electronic medical record. Frequencies of high ESS item ratings (item score ≥2) were calculated for each group. Cronbach’s α and factor analysis were performed to assess the internal consistency and validity of the ESS within cases and controls. Multivariable linear models were used to assess the association between ESS and predictors of interest, adjusting for demographic and disease-specific variables, including seizure type, frequency, and anti-seizure medication (ASM) therapy. ResultsWhile suspected OSA controls had significantly greater mean ESS total scores (9.9 vs 7.9, p = 0.004) and proportion with ESS >10 (42% vs 25%, p = 0.014), there were no significant differences in the severity of item responses, with the exception of “lying down to rest in the afternoon when circumstances permit,” for which more controls rated as likely/very likely (79% vs 64%), p = 0.024). AWE with ESS >10 had higher mean standardized ASM dose (2.5 vs 1.7, p = 0.026). All ESS items were significantly correlated with the total score within each group. Cronbach’s α was 0.75 for cases and 0.85 for controls, indicating good internal consistency of the ESS for both groups. After adjusting for demographic and sleep characteristics, higher ESS scores were associated with greater insomnia scores on the ISI (p = 0.024) and depressive symptoms on the BDI (p = 0.018). ConclusionsThis study provides validity for the use of the ESS in adult populations with epilepsy.

Identification and categorisation of relevant outcomes for symptomatic uncomplicated gallstone disease: in-depth analysis to inform the development of a core outcome set

BackgroundMany completed trials of interventions for uncomplicated gallstone disease are not as helpful as they could be due to lack of standardisation across studies, outcome definition, collection and reporting. This...

P116 Development of a new patient-reported outcome measure for patients with complex cryptoglandular fistulas

Abstract Background Complex cryptoglandular fistulas (CCF) arise from infected anal glands and are often associated with substantial morbidity and healthcare utilization. Standarized patient-reported outcome measures (PROMs) for CCF are lacking. Thus, we aimed to develop a disease-specific PROM to assess the burden of symptoms and their impact on daily life in patients with CCF. Methods To develop a conceptual model, a targeted literature review was conducted to identify symptoms and impacts on daily life associated with CCF. Existing PROMs relating to anal fistulas were also sought. Semi-structured interviews with colorectal surgeons (n=5) assessed clinical perspectives on patient experience of CCF. A draft item pool was developed based on the refined conceptual model and using the Quality of Life in Patients with Anal Fistula Questionnaire as a reference. The tool was refined through concept elicitation interviews on the symptoms and impacts of CCF, and cognitive debriefing on the interpretation, understanding and response to each item. Interviews were conducted until concept saturation was achieved and patient feedback suggested no further refinements were required. Results The literature review identified discharge, pain, faecal incontinence and bleeding as the most prevalent symptoms, and embarrassment as the most prevalent impact on daily life. Results from surgeon interviews were then used to revise the initial conceptual model. Twenty US adults (60% female; mean age, 49 years) with clinically confirmed CCF participated in interviews (four waves of n=5). Patients identified 10 salient symptoms and 11 salient impacts on daily life (salient defined as mention by ≥50% of patients and mean disturbance rating ≥5 on a 10-point scale). The final conceptual model included the main symptoms and treatment-related effects, and impacts on daily life. The draft item pool was refined, resulting in a final PROM consisting of 14 items (covering frequency and severity) relating to symptom domains – discharge, incontinence, pain, irritation, odour, abscess – and 6 items relating to health-related quality of life domains – functional, physical, psychological, social health. The PROM features a 7-day recall period, with responses mostly given on a 5-point verbal rating scale. Cognitive debriefing confirmed that the PROM was clear, easy to understand and relevant to patients’ experiences. Conclusion The 20-item CCF questionnaire (CCFQ-20) is a new PROM that has been developed and tested for content validity, following expert guidance and regulatory best practices. It addresses a comprehensive set of salient symptoms and impacts experienced by patients with CCF. Psychometric testing is required to fully evaluate this PROM. Sponsor: Takeda Pharmaceuticals USA, Inc.

Patient-reported outcomes and patient-reported outcome measures in interstitial lung disease: where to go from here?

Patient-reported outcome measures (PROMs), tools to assess patient self-report of health status, are now increasingly used in research, care and policymaking. While there are two well-developed disease-specific PROMs for interstitial lung diseases (ILD) and idiopathic pulmonary fibrosis (IPF), many unmet and urgent needs remain. In December 2019, 64 international ILD experts convened in Erice, Italy to deliberate on many topics, including PROMs in ILD. This review summarises the history of PROMs in ILD, shortcomings of the existing tools, challenges of development, validation and implementation of their use in clinical trials, and the discussion held during the meeting. Development of disease-specific PROMs for ILD including IPF with robust methodology and validation in concordance with guidance from regulatory authorities have increased user confidence in PROMs. Minimal clinically important difference for bidirectional changes may need to be developed. Cross-cultural validation and linguistic adaptations are necessary in addition to robust psychometric properties for effective PROM use in multinational clinical trials. PROM burden of use should be reduced through appropriate use of digital technologies and computerised adaptive testing. Active patient engagement in all stages from development, testing, choosing and implementation of PROMs can help improve probability of success and further growth.

Patient-Reported Outcomes in Inflammatory Bowel Disease: A Measurement of Effect in Research and Clinical Care

The measurement of outcomes is key in evaluating healthcare or research interventions in inflammatory bowel disease (IBD). In patient-centred care, patient-reported outcome measures (PROMs) are central to this evaluation. In this review, we provide an overview of validated, adult disease-specific PROMs developed for use in IBD. Our aim is to assist clinicians and researchers in selection of PROMs to measure outcomes in their patient cohort. The Consensus-based Standards for the Selection of Health Measurement Instruments database of systematic reviews was the primary resource used to identify PROMs used in IBD. Search terms were ‘Crohn’s disease’, ‘ulcerative colitis’, and ‘IBD’. Seven systematic reviews were identified from this search. In addition, the publication by the IBD Core Outcome Set Working Group was used to identify further PROMs. Three systematic reviews were excluded as they did not meet the inclusion criteria. From the five included systematic reviews, we identified 21 PROMs and their shortened versions. In conclusion, it does not appear that any one PROM is entirely suitable for both research and clinical practice. Overall, the IBDQ-32 is most widely used in research but has the limitation of cost, whereas the IBD-Control has been recommended in the clinical core outcome set.

Evaluation of PROMIS’ Ability to Detect Immediate Postoperative Symptom Improvement Following Carpal Tunnel Release

We sought to determine whether subjective clinical improvement immediately after carpal tunnel release (CTR) was captured by Patient-Reported Outcomes Measurement Information System (PROMIS) Upper Extremity (UE), Physical Function (PF), Pain Interference (PI), and Depression. Between September 2018 and January 2020, patients presenting to a single academic medical center hand clinic were asked to complete PROMIS UE, PF, PI, and Depression computer adaptive tests. In addition, patients who had CTR were asked to answer the following at their first postoperative clinic visit: "Since my last clinic visit, my condition is: (1) much better; (2) mildly better; (3) no change; (4) mildly worse; (5) much worse." For each patient, the last clinic visit was the final preoperative visit. The PROMIS domain scores were compared before and after surgery using paired t tests. The percentage of patients subjectively reporting better symptoms was calculated. A total of 156 patients fit our inclusion criteria. The average number of days between the final preoperative visit and CTR was 7 (range, 0-30), and the average number of days between CTR and the first postoperative visit was 9 (range, 3-21). A total of 116 patients (74%) reported their carpal tunnel syndrome was better at their first postoperative visit. However, PROMIS UE, PF, and PI scores were significantly worse at the first postoperative visit, although not at clinically appreciable levels. There was no statistical or clinical difference in PROMIS Depression scores from pre- to postoperative time points. Nearly 75% of patients subjectively report their carpal tunnel syndrome is better at their first follow-up visit within 3 weeks of CTR; however, PROMIS does not capture this improvement. Hand surgeons evaluating patients shortly following CTR should be aware of the potential limitation of PROMIS to accurately capture immediate postoperative clinical outcomes. Disease-specific Patient-Reported Outcome Measures, such as the Boston Carpal Tunnel Questionnaire, may be preferred during this immediate postoperative timeframe.

Changes in quality of life (QoL) and other patient-reported outcome measures (PROMs) in living-donor and deceased-donor kidney transplant recipients and those awaiting transplantation in the UK ATTOM programme: a longitudinal cohort questionnaire survey with additional qualitative interviews

ObjectiveTo examine quality of life (QoL) and other patient-reported outcome measures (PROMs) in kidney transplant recipients and those awaiting transplantation.DesignLongitudinal cohort questionnaire surveys and qualitative semi-structured interviews using thematic analysis...

Outcome Measures and Quality of Life in Vestibular Schwannomas

This review summarizes existing vestibular schwannoma (VS) disease-specific and non-disease-specific patient-reported outcome measure (PROM) tools for quality of life (QoL) and audio-vestibular symptoms, compares QoL across treatment modalities, and discusses the potential role of psychological variables in QoL and recovery after surgical resection of VS. VS treatment success was previously assessed according to various factors such as the extent of tumor resection, facial nerve function, and hearing preservation. However, the literature demonstrates recent shifts away from using such physician-reported “objective” outcomes as benchmarks for success towards more patient-perceived “subjective” measures. A number of PROM tools have been developed to assess QoL and other measures in patients with VS. This has allowed us to better understand and quantify the impact of the disease and of the treatments on our patient population. However, there are important considerations to be made when applying PROM in clinical settings such as understanding the concept of Minimal Clinically Important Difference (MCID). The use of disease-specific PROMs, such as the PANQOL, as a primary outcome in VS research is encouraged. When doing so, PROM scales should incorporate the concept of MCID to distinguish statistically significant from clinically significant findings and should further investigate the role of non-medical variables, such as psychological variables, on QoL and recovery trajectories in patients with VS. Actual literature does not seem to indicate a clinically significant difference in patient-reported outcomes among treatment modalities.

Patient perceptions of health-related quality of life in giant cell arteritis: international development of a disease-specific patient-reported outcome measure.

ObjectivesGCA is a large vessel vasculitis (LVV) presenting with headache, jaw claudication, musculoskeletal and visual involvement. Current treatment is glucocorticoids and anti-IL-6 tocilizumab in refractory disease. The objective of this study was to explore the impact of GCA and its treatment on people’s health-related quality of life (HRQoL), to inform the development of a disease-specific patient-reported outcome measure (PROM) for use in clinical trials and practice.MethodsParticipants from the UK and Australia, with biopsy- or imaging-confirmed GCA, were interviewed to identify salient aspects of HRQoL in relation to GCA and its treatment. Purposive sampling included a range of demographic and disease features (cranial, LVV-GCA and visual involvement). Inductive analysis identified individual themes of importance, then domains. Candidate questionnaire items were developed from the individual themes, refined by piloting, cognitive interviews and a linguistic translatability assessment.ResultsThirty-six interviews were conducted to saturation with participants with GCA from the UK (25) and Australia (11). Mean age was 74 years, 23 (63.9%) were female, 13 (36.1%) had visual loss and 5 (13.9%) had LVV-GCA. Thirty-nine individual themes within five domains were identified: physical symptoms; activity of daily living and function; participation; psychological impact; and impact on sense of self and perception of health. Sixty-nine candidate items were developed from individual themes; piloting and refinement resulted in a 40-item draft questionnaire.ConclusionThis international qualitative study underpins the development of candidate items for a disease-specific PROM for GCA. The draft questionnaire is now ready for psychometric testing.

RESULTS FROM A NATIONAL CROSS-SECTIONAL STUDY OF DISEASE BURDEN IN CROHN’S DISEASE

Abstract Background Patients with Crohn’s disease experience a wide variety of clinical symptoms that affect how they feel and function. As therapeutic trials are planned for patients with Crohn’s disease, it is important to better understand the symptoms that have the greatest impact on Crohn’s disease patient’s lives. Objective To identify the most common and important disease manifestations in Crohn’s disease in a large population of patients. To determine the modifying factors that are associated with these symptoms. Methods We conducted a national cross-sectional study of 415 patients from the IBD Partners patient registry sponsored by the Crohn’s &amp; Colitis Foundation to identify the prevalence and relative importance of 148 individual symptoms across 17 unique symptomatic themes. These themes were previously identified through 16 semi-structured qualitative interviews with Crohn’s patients. Results Crohn’s disease participants provided over 55,000 symptom rating responses. The symptomatic themes with the highest prevalence in Crohn’s disease were gastrointestinal issues (93.0%), fatigue (86.4%), dietary restrictions (77.9%), impaired sleep or daytime sleepiness (75.6%), and inability to do activities (72.3%). Symptomatic theme prevalence was widely associated with having above the median number of stools per day, having above the median number of bowel movements per day, having perianal disease, having to miss work, and unemployment. Discussion/Conclusion: Crohn’s disease symptoms, some under-recognized, vary based on disease characteristics and demographic features. These symptoms represent targets for future therapeutic interventions and are potential areas of interest for an upcoming disease-specific patient-reported outcome measure for this population. Acknowledgements Funding for this project was provided by UR Ventures. Research activities were conducted in collaboration with the Crohn’s &amp; Colitis Foundation.

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

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.ObjectiveThis research aims to identify key factors to consider when using different types of PROMs in HTA for rare disease treatments (RDTs).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.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.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.Supplementary InformationThe online version contains supplementary material available at 10.1007/s40271-020-00493-w.

Development of a Patient-Reported Outcome Measure for Non-Alcoholic Steatohepatitis (NASH-CHECK): Results of a Qualitative Study

BackgroundNon-alcoholic steatohepatitis (NASH) is a progressive form of non-alcoholic fatty liver disease characterized by excessive liver fat accumulation, inflammation, cell injury, and fibrosis. It is viewed as largely asymptomatic in its earlier (non-cirrhotic) stages, and information on the patient-perceived impact of NASH is scarce.ObjectiveThis study aimed to develop a NASH-specific patient-reported outcome (PRO) measure (NASH-CHECK) for use as a trial endpoint, using methods compliant with regulatory expectations.MethodsA NASH conceptual model was developed based on the literature and clinical/patient expert review. The model guided concept elicitation (CE) interviews in patients with non-cirrhotic NASH recruited via a US tertiary care center. NASH-CHECK content was generated via thematic analysis of CE data and review by clinical/patient experts. Cognitive debriefing (CD) interviews with US patients evaluated content validity.ResultsThe literature review confirmed that NASH impacts on functioning and health-related quality of life (HRQoL). Overall, 23 CE and 20 CD interviews were conducted. Key symptoms reported in CE interviews included pain in the upper-right abdomen (n = 14), fatigue (n = 18), poor sleep quality (n = 12), impaired memory (n = 13), and reduced focus (n = 11); key HRQoL impacts included impaired physical functioning, reduced ability to conduct daily living tasks, reduced quality of relationships, low mood, anxiety, and self-consciousness. The 52-item first-draft NASH-CHECK was reduced to 31 items based on patient feedback on item relevance, acceptability, and comprehension.ConclusionsThe interviews revealed key symptoms and broad HRQoL impacts of NASH. As a disease-specific PRO measure assessing symptoms and HRQoL, the NASH-CHECK is relevant, comprehensive, and acceptable to patients and clinicians.

I-WISh: A wish list for immune thrombocytopenia quality of life indicators becomes reality.

I-WISh: A wish list for immune thrombocytopenia quality of life indicators becomes reality.