Disease-specific Outcome Measures Research Articles

Surgical Intervention is Associated with Improvement in Health-Related Quality of Life Outcomes in Patients with Symptomatic Sacral Tarlov Cysts: Results from a Prospective Longitudinal Cohort Study

The treatment of symptomatic Tarlov cysts remains a controversial topic within neurosurgery. We describe our experience with patients who underwent surgical intervention for sacral Tarlov cysts at a single institution. General and disease-specific outcome measures were used to assess health-related quality of life. Patients who underwent surgical treatment for one or more sacral Tarlov cysts between 2018 and 2021 were included. The Tarlov Cyst Quality of Life (TCQoL), a validated disease-specific measure, was the primary outcome of the study. Secondary outcomes included general outcome measures: 36-Item Short Form Survey, the Oswestry Disability Index, and Visual Analog Scale. Patients were followed at 3, 6, and 12 months postoperative. Repeated measures analyses were used to assess change from preoperative to 12 months postoperative. Data were obtained from 144 patients who underwent surgery for sacral Tarlov cysts, average age 52.3 ± 11.3 years, 90.3% female. Patients reported significant mean improvement on the TCQoL over time (preoperative 3.2±0.1; 3-months postoperative 2.1±0.1; 6-months 1.9±0.1; 12-months 1.9±0.1; P< 0.001). Patient age and duration of symptoms were not associated with outcome. 82.3% of patients reported improvement on TCQoL. There was not a significant difference in the proportion of patients reporting improvement on TCQoL by cyst size (small 90.9% vs. large 77.9%; P = 0.066). Our longitudinal series demonstrated patient-reported improvement following surgery for symptomatic sacral Tarlov cysts using a validated disease-specific health-related quality of life scale through 12 months following surgery. Patient age and preoperative duration of symptoms were not correlated with outcome.

Cannabidiol (Epidyolex®) for severe behavioral manifestations in patients with tuberous sclerosis complex, mucopolysaccharidosis type III and fragile X syndrome: protocol for a series of randomized, placebo-controlled N-of-1 trials

BackgroundMany rare genetic neurodevelopmental disorders (RGNDs) are characterized by intellectual disability (ID), severe cognitive and behavioral impairments, potentially diagnosed as a comorbid autism spectrum disorder or attention-deficit hyperactivity disorder. Quality of life is often impaired due to irritability, aggression and self-injurious behavior, generally refractory to standard therapies. There are indications from previous (case) studies and patient reporting that cannabidiol (CBD) may be an effective treatment for severe behavioral manifestations in RGNDs. However, clear evidence is lacking and interventional research is challenging due to the rarity as well as the heterogeneity within and between disease groups and interindividual differences in treatment response. Our objective is to examine the effectiveness of CBD on severe behavioral manifestations in three RGNDs, including Tuberous Sclerosis Complex (TSC), mucopolysaccharidosis type III (MPS III), and Fragile X syndrome (FXS), using an innovative trial design.MethodsWe aim to conduct placebo-controlled, double-blind, block-randomized, multiple crossover N-of-1 studies with oral CBD (twice daily) in 30 patients (aged ≥ 6 years) with confirmed TSC, MPS III or FXS and severe behavioral manifestations. The treatment is oral CBD up to a maximum of 25 mg/kg/day, twice daily. The primary outcome measure is the subscale irritability of the Aberrant Behavior Checklist. Secondary outcome measures include (personalized) patient-reported outcome measures with regard to behavioral and psychiatric outcomes, disease-specific outcome measures, parental stress, seizure frequency, and adverse effects of CBD. Questionnaires will be completed and study medication will be taken at the participants’ natural setting. Individual treatment effects will be determined based on summary statistics. A mixed model analysis will be applied for analyzing the effectiveness of the intervention per disorder and across disorders combining data from the individual N-of-1 trials.DiscussionThese N-of-1 trials address an unmet medical need and will provide information on the effectiveness of CBD for severe behavioral manifestations in RGNDs, potentially generating generalizable knowledge at an individual-, disorder- and RGND population level.Trial registrationEudraCT: 2021-003250-23, registered 25 August 2022, https://www.clinicaltrialsregister.eu/ctr-search/trial/2021-003250-23/NL.

Chronic cough: more than just a persistent cough: a systematic literature review to understand the impact of chronic cough on quality of life.

Chronic cough (CC), defined as a cough persisting ≥ 8weeks, can have a substantial negative impact on health-related quality of life (HRQoL). This is exacerbated by challenges with timely diagnosis and a lack of approved therapies. A systematic literature review (SLR) was conducted to identify evidence on HRQoL and health state utility values associated with refractory CC or unexplained CC. Electronic database searches were supplemented with searches of conference proceedings and health technology assessment body websites. Two independent reviewers assessed all citations for inclusion based on predefined inclusion/exclusion criteria. Key inclusion criteria were patient populations with CC and reporting of patient-reported outcomes or utilities using generic or disease-specific measures. Following screening, 65 studies were identified for inclusion in the SLR. Of these, 23 studies assessed HRQoL among patients with CC who were not treated or treated with unspecified interventions, and 42 studies in patients who were treated with specified interventions. The studies indicated a substantial decrement to HRQoL as a result of CC, characterized by generic and disease-specific patient-reported outcome measures. HRQoL was impacted across multiple domains, including physical, psychological, and social functioning. The studies also demonstrated the potential for treatments to have a significant positive impact on HRQoL. CC can substantially affect HRQoL in patients, across physical, psychological, and social domains. Although treatments can improve HRQoL in these patients, the available evidence is limited. There remains an unmet need for approved pharmacological treatments to alleviate CC and improve HRQoL for these patients.

Capturing Patient Value in an Economic Evaluation.

Economic evaluations predominantly use generic outcomes, such as the Euro Quality of Life-5 Dimension (EQ-5D), to assess health status. However, because of the generic nature, they are less suitable to capture the quality of life of patients with specific conditions. Given the transition to patient-centered (remote) care delivery, this study aims to evaluate the possibility of using disease-specific measures in a cost-effectiveness analysis. A real-life cohort from Maasstad Hospital (2020-2021) in the Netherlands, with 772 patients with rheumatoid arthritis (RA), was used to assess the cost-effectiveness of electronic consultations (e-consultations) compared with face-to-face consultations. The Incremental Cost-Effectiveness Ratio (ICER), based on the generic EQ-5D, was compared with ICER's based on RA-specific measures: the Rheumatoid Arthritis Impact of Disease (RAID) and Health Assessment Questionnaire-Disability Index (HAQ-DI). To compare the cost-effectiveness of these different measures, HAQ-DI and RAID were expressed in quality-adjusted life-years (QALYs) via estimated conversion equations. Disease-specific patient-reported outcome measures (PROMs) offer a promising alternative for traditional measures in economic evaluations, capturing patient-relevant domains more comprehensively. Because PROMs are increasingly applied in clinical practice, the next step entails modeling of an RA patient-wide conversion equation to implement PROMs in economic evaluations. The conventional ICER (eg, EQ-5D) indicates that e-consultations are cost-effective with cost savings of -€161,000 per QALY gained for a prevalent RA cohort treated in a secondary trainee hospital. RA-specific measures show similar results, with ICERs of -€163,000 per HAQ-DI (QALY) and -€223,000 per RAID (QALY) gained. RA-specific measures capture patient-relevant domains and offer the opportunity to improve the assessment and treatment of the disease impact.

Effect of avalglucosidase alfa on disease-specific and general patient-reported outcomes in treatment-naïve adults with late-onset Pompe disease compared with alglucosidase alfa: Meaningful change analyses from the Phase 3 COMET trial

BackgroundThe Phase 3 COMET trial (NCT02782741) comparing avalglucosidase alfa and alglucosidase alfa included health-related quality of life (HRQoL) assessments in treatment-naïve patients with late-onset Pompe disease (LOPD). Here, we further characterize results from disease-specific and general patient-reported outcome (PRO) measures. MethodsAdults who participated in the COMET trial receiving avalglucosidase alfa or alglucosidase alfa (both 20 mg/kg biweekly) during the 49-week double-blind treatment period were included in the analysis. Proportions of patients exceeding meaningful change thresholds at Week 49 were compared post hoc between treatment groups. PROs and their meaningful change thresholds included: Pompe Disease Severity Scale (PDSS; decrease 1.0–1.5 points), Pompe Disease Impact Scale (PDIS; decrease 1.0–1.5 points), Rasch-built Pompe-specific Activity Scale (R-PAct; change from unable to able to complete activity), 12-item Short Form Health Survey (SF-12; physical component summary [PCS] score: increase ≥6 points, mental component summary [MCS] score: increase ≥7 points), EuroQol 5 Dimension 5 Level (EQ-5D-5L; improvement of ≥1 category), and Patient Global Impression of Change (PGIC; any improvement). ResultsThe analysis included 99 adult patients (avalglucosidase alfa n = 50; alglucosidase alfa n = 49). Patients who received avalglucosidase alfa had significantly greater odds of achieving a meaningful change versus alglucosidase alfa for the PDSS Shortness of Breath (OR [95% CI] 11.79 [2.24; 62.18]), Fatigue/Pain (6.24 [1.20; 32.54]), Morning Headache (13.98 [1.71; 114.18]), and Overall Fatigue (5.88 [1.37; 25.11]) domains, and were significantly more likely to meet meaningful change thresholds across multiple PDSS domains (all nominal p < 0.05). A numerically greater proportion of patients in the avalglucosidase alfa group were able to complete selected activities of the R-PAct compared with the alglucosidase alfa group. Significantly greater proportions of patients who received avalglucosidase alfa achieved meaningful improvements for EQ-5D-5L usual activities dimension, EQ visual analog scale, and all four PGIC domains. The proportion of patients with improvements in SF-12 PCS and MCS was greater in the avalglucosidase alfa group versus alglucosidase alfa group, but was not significant (p > 0.05). ConclusionsThese analyses show that avalglucosidase alfa improves multiple symptoms and aspects of daily functioning, including breathing and mobility. This supports the clinical relevance of the effects of avalglucosidase alfa on HRQoL for patients with LOPD.

OP134 Mapping The Health Of The Nation Outcomes Scale To The EQ-5D Using The Pharmacotherapy Monitoring And Outcome Survey

IntroductionIn clinical practice, health outcomes relevant for economic evaluations, such as health-related quality of life (i.e., utilities), are not always available. However, algorithms can be developed to map available outcome measures to utilities. In the Netherlands, the Health of the Nations Outcomes Scores (HoNOS) is a physician-reported, disease-specific outcome measure frequently used for patients with severe mental illness for which no mapping algorithms for utilities currently exist. The aim of this study was to develop an algorithm to map responses on the HoNOS to EQ-5D utilities for use in economic evaluations.MethodsA dataset was obtained from the Pharmacotherapy Monitoring and Outcome Survey cohort study containing data from patients with psychotic disorders. The dataset contains EQ-5D-3L domain and HoNOS scores, the age and sex of patients, and additional demographics. Correlation between the EQ-5D-3L and HoNOS was evaluated. To derive mapping functions, least absolute shrinkage and selection operator (LASSO) regression and random forest algorithms were applied with various predictor variables using a machine learning approach, whereby data were split into separate training and test sets. Cross-validation was then used to compare the performance of different models using R-squared and the root mean square error (RMSE).ResultsA total of 2,111 patients were included in the study. Spearman’s correlation coefficients indicated a weak to moderate negative correlation of -0.31. Based on model performance metrics, LASSO models outperformed random forest models on the training set, where the model including all individual HoNOS items and the age and sex of patients showed the best overall performance with an RMSE of 0.237 and an R-squared of 0.218. When applied to the test set, this resulted in an R-squared of 0.233 and a mean absolute error of 0.177.ConclusionsThe HoNOS can be mapped onto EQ-5D-3L utilities with moderate predictive accuracy. The reported mapping algorithm may be sufficient to predict overall population utility scores for use in health economic evaluations but lacks accuracy for individual patient predictions.

Abstract 14025: Health Status Profiles in Patients With New or Worsening Peripheral Artery Disease Symptoms and 12-month Hospitalization Risk From the Portrait Registry

Introduction: Risk stratification for healthcare utilization in PAD is critical given rising costs. The association between health status measures and hospitalization is unknown. We examined the association between a disease-specific patient-reported outcome measure and risk of hospitalization at 12 months. Methods: Patients with new or worsened lower extremity claudication enrolled at US sites in the PORTRAIT registry from 2011 to 2015 were included. The Peripheral Artery Questionnaire, a PAD-specific patient-reported outcome measure, was used to measure health status. PAQ summary scores range from 0 to 100 (better health status). Kaplan-Meier failure curves and adjusted Cox proportional hazards models assessed the association between baseline PAQ summary score and (1) the combined endpoint of all-cause hospital admission and ED visit (AD-ED) and (2) all-cause hospital admission (AD) at 12 months. Results: Of the 796 patients (mean age 69 ± 10 years, 42% female, 72% white, mean baseline PAQ summary score 46.8 ± 22.0) included, 349 (44%) had a hospital admission or ED visit at 12 months, with a total of 661 visits. Patients in the lowest PAQ quartile had higher rates of AD-ED at 30 days (16.1% vs. 4.3%), 90 days (29.8% vs. 12.8%), and 12 months (53.3% vs. 22.4%). In the fully adjusted model, lower PAQ score was associated with higher risk for AD-ED (HR per 10-point decrease, 1.12, 95% CI, 1.06-1.19, P&lt;0.001) and AD (HR per 10-point decrease, 1.14, 95% CI, 1.06-1.22, P&lt;0.001). Conclusion: Lower PAD-specific health status is associated with an increased risk in the combined endpoint of hospital admission or ED visits and all-cause hospital admission. These results support the use of baseline health status as a strong predictor for healthcare utilization in a high-risk population and may help to offset costs.

Clinical Utility of Patient-Reported Outcome Instruments in the Management of Pulmonary Hypertension: A Systematic Review

BackgroundDespite the greater sensitivity and specificity of disease-specific patient-reported outcome measures (PROM) to detect clinical change, only recently have such instruments been developed for pulmonary hypertension (PH), specifically pulmonary arterial hypertension (PAH) and chronic thromboembolic disease (CTEPH). Although these valuable tools are now being incorporated into clinical studies of PH, they have not yet reached widespread integration into routine clinical care. ObjectivesIn this systematic review, the authors assess the psychometric properties of PROM developed for PH, compare PROM with other clinical outcomes in PH, and address the utility of PROM in clinical care. MethodsThe authors performed a systematic search of papers published between January 1, 2006, and October 1, 2022, using the MEDLINE database to identify PROM developed and validated for PH. The identified PROM were found to have been developed only in groups with PAH and CTEPH. The authors evaluated the identified instruments according to established psychometric criteria. An additional search was performed to identify randomized controlled trials (RCTs) utilizing these PROM for comparison with clinical outcomes. ResultsFrom 527 papers retrieved, a total of 35 PROM were identified. Of these, 5 disease-specific instruments were included in the final analysis. While both CAMPHOR (Cambridge Pulmonary Hypertension Outcome Review) and emPHasis-10 performed well in patients with PAH and CTEPH with regard to their psychometric properties, emPHasis-10 demonstrated superior feasibility for use in clinical practice due to its concise format. The Pulmonary Arterial Hypertension–Symptoms and Impacts Questionnaire performed well in the authors’ analysis, though additional data is needed regarding interpretability and feasibility. ConclusionsEmPHasis-10 demonstrated strong psychometric properties and the greatest feasibility for clinical use. Further study assessing the integration of PROM into routine clinical care for PH is needed.

Correlating Vestibular Migraine Patient Assessment Tool and Handicap Inventory to Daily Dizziness Symptoms.

Investigate the relationship between Vestibular Migraine Patient Assessment Tool and Handicap Inventory (VM-PATHI) scores and daily dizziness symptoms. Prospective cohort analysis of 52 patients with vestibular migraine (VM). Tertiary referral center. Fifty-two patients diagnosed with VM or probable VM according to Barany Society criteria. Subjects reported their dizzy symptoms (on a scale of 0 [no symptoms], 1 [mild], 2 [moderate], and 3 [severe]) every day for 1 month via automated text messaging linked to a cloud-based research database. Subjects completed VM-PATHI and Dizziness Handicap Inventory (DHI) scores at the end of the month. We examined the correlation between a composite of daily dizziness scores with VM-PATHI and DHI scores through linear regression and correlation analysis. Pearson correlation coefficient, R2 value. VM-PATHI showed a moderate correlation with daily dizziness symptoms (correlation coefficient, 0.51). DHI showed a lower correlation with daily dizziness (correlation coefficient, 0.38). VM-PATHI score was a strong predictor of daily dizziness with univariate linear regression (R2 = 0.26, p = 0.001). In a multiple linear regression model with age, history of anxiety and/or depression, and VM-PATHI, the VM-PATHI score was the only statistically significant predictor of daily dizziness (p < 0.001). Daily dizziness symptoms are better correlated with VM-PATHI score than the DHI, providing further validation of VM-PATHI as a disease-specific outcome measure for patients with VM.

ASSOCIATIONS BETWEEN SCREENING FOR FUNCTIONAL JAW DISTURBANCES AND PATIENT REPORTED OUTCOMES ON JAW LIMITATIONS AND ORAL BEHAVIORS.

Temporomandibular disorders (TMDs) is a collective term for pain and functional disturbances related to the jaw muscles and the temporomandibular joint. In contrast to screening for orofacial pain, knowledge is limited on the association between patient-reported outcomes and screening for joint-related functional jaw disturbances. Therefore, our aim was to evaluate the association between a screening question for functional jaw disturbances, and disease-specific outcome measures for functional jaw limitations and oral behaviors. This study included 299 individuals (201 women; 20-69 years, median 37.0) in a general population sample from Västerbotten, Northern Sweden in 2014. A single screening question for functional jaw disturbances "Does your jaw lock or become stuck once a week or more?" was used to categorize individuals as cases or controls. Patient-reported outcomes on functional jaw disturbances were assessed with the 20-item jaw functional limitation scale (JFLS-20) and oral behaviors with the 21-item Oral Behaviors Checklist (OBC-21). The strongest predictive probability to have a positive screening outcome was functional jaw limitations related to mobility (AUCboot=0.78, 95 CI:0.71-0.86, P < .001), followed by limitations related to communication (AUCboot = 0.74, 95 CI:0.63-0.80, P < .001) and mastication (AUCboot = 0.73, 95 CI:0.66-0.81, P < .001). The frequency of oral behaviors was not significantly associated with a positive screening outcome (AUCboot = 0.65, 95 CI:0.55-0.72, P = .223). Self-reported functional limitations, but not oral behaviors, are strongly associated with a single screening question for frequent functional jaw disturbances. This finding provides support for incorporating a question on jaw catching/locking once a week or more in screening instruments for TMDs.

The Facioscapulohumeral Muscular Dystrophy-Health Index: Development and evaluation of a disease-specific outcome measure.

As promising therapeutic interventions are tested among patients with facioscapulohumeral muscular dystrophy (FSHD), there is a clear need for valid and reliable outcome tools to track disease progression and therapeutic gain in clinical trials and for clinical monitoring. Our aim was to develop and validate the Facioscapulohumeral Muscular Dystrophy-Health Index (FSHD-HI) as a multifaceted patient-reported outcome measure (PRO) designed to measure disease burden in adults with FSHD. Through initial interviews with 20 individuals and a national cross-sectional study with 328 individuals with FSHD, we identified the most prevalent and impactful symptoms in FSHD. The most relevant symptoms were included in the FSHD-HI. We used patient interviews, test-retest reliability evaluation, known groups validity testing, and factor analysis to evaluate and optimize the FSHD-HI. The FSHD-HI contains 14 subscales that measure FSHD disease burden from the patient's perspective. Fourteen adults with FSHD participated in semistructured beta interviews and found the FSHD-HI to be clear, usable, and relevant to them. Thirty-two adults with FSHD participated in test-retest reliability assessments, which demonstrated the high reliability of the FSHD-HI total score (intraclass correlation coefficient = 0.924). The final FSHD-HI and its subscales also demonstrated a high internal consistency (Cronbach α = 0.988). The FSHD-HI provides researchers and clinicians with a reliable and valid mechanism to measure multifaceted disease burden in patients with FSHD. The FSHD-HI may facilitate quantification of therapeutic effectiveness, as demonstrated by its use as a secondary and exploratory measure in several clinical trials.

Development and validation of a novel personalized electronic patient-reported outcome measure to assess quality of life (Q-LIFE): a prospective observational study in people with Cystic Fibrosis

Generic and disease-specific patient-reported outcome measures (PROMs) may lack relevance and sensitivity on a patient-level in chronic diseases with differential disease expression and high individual variability, such as Cystic Fibrosis (CF). This study aimed to develop and validate a novel personalized electronic PROM (ePROM) that captures relevant aspects of quality of life in individuals with CF. The Q-Life app was developed as a short personalized ePROM to assess individual quality of life. Psychometric properties were assessed in a single-center cross-sectional study between September 2019 and September 2021 and in a prospective cohort study between September 2021 and September2022. Combined studies included 223 participants (median age: 24 years, IQR: 19.0-32.5 years, range: 12.0-58.0 years). Internal consistency (Cronbach's alpha: 0.83-0.90) and test-retest reliability (intraclass correlation coefficient: 0.90; 95% CI: 0.65-0.92; p<0.001) of quality of life (Q-Life) scores were strong. Q-Life scores were associated with overall Cystic Fibrosis Questionnaire-Revised (CFQ-R) scores (ρ=0.71; p<0.001), CFQ-R respiratory domain scores (ρ=0.57; p<0.001) and forced expiratory volume in 1s (ρ=0.41; p<0.001). Furthermore, Q-Life scores improved from 65.0 (IQR: 45.0-63.3) at baseline to 84.2 (IQR: 75.0-95.0) and 87.5 (IQR: 75.0-100.0) after 3 and 6 months of elexacaftor/tezacaftor/ivacaftor treatment (change: 20.8; 95% CI: 17.5-25.0; p<0.001), comparable to CFQ-R respiratory domain scores (change: 22.2, 95% CI: 19.4-25.0, p<0.001). The Q-Life app is a reliable, valid and sensitive personalized ePROM to measure all aspects of quality of life that really matter to individuals with Cystic Fibrosis. This patient-centered approach could provide important advantages over generic and disease-specific PROMs in the era of personalized medicine and value-based healthcare. Dutch Cystic Fibrosis Foundation, Health-Holland.

Development of outcome measures for giant cell arteritis for use in clinical trials and standard practice.

Developments in outcome measures in the rheumatic diseases are promoted by the development of successful treatments. Giant cell arteritis (GCA) is a multifaceted disorder and, therefore, measurement of multiple outcomes is relevant to this illness. It is a privilege to analyze and monitor/transfer long-term patients' management outcomes particularly if the same outcomes are used in practice and in trials. To classify the outcome measures for GCA with a discriminative ability to identify the disease activity status and response to therapy. This study was composed of two steps, instrument design (item generation) and judgmental evidence. A panel of 13 experts was used to validate the instrument through quantitative (content validity) and qualitative (cognitive interviewing) methods. Content validity index was used to assess content validity quantitatively. Five items achieved high content validity where item-content validity index score was >0.79, and in the meantime achieved high content validity response score reflecting greater agreement among panel members. Through qualitative methods, items were improved until saturation was achieved. This agreed with the expert panel ranking of the items included in GCA disease outcome measures set. For daily clinical practice, outcome measures should reflect the patients' disease activity status and have to be easily assessed and recorded. The study identified composite outcome measures for GCA able to assess the disease state and monitor response to therapy. Key Points • Despite the cohort studies published in giant cell arteritis (GCA), there are no fully validated outcome measures for use in standard practice or clinical trials. • There is a gap in international standards for assessing GCA disease activity. • Identifying disease specific outcome measures is vital for monitoring response to therapy, treatment case series and therapeutic clinical trials in GCA. • This study was carried out aiming to classify the outcome measures for GCA with a discriminative ability to identify the disease activity status and response to therapy.

The SOS-SAH questionnaire in clinical practice: a multi-method evaluation study

BackgroundIn patients with mild disabilities after aneurysmal subarachnoid hemorrhage (aSAH), invisible symptoms might be easily overlooked during consultations in the outpatient clinic. We hypothesize that the Questionnaire for the Screening of Symptoms in aneurysmal Subarachnoid Hemorrhage (SOS-SAH), a disease-specific patient-reported outcome measure, might aid in screening for symptoms after aSAH. The objective of this explorative study is to evaluate the perceived impact of using the SOS-SAH in daily clinical practice for patients after aSAH, as well as to explore potential barriers to further implementation.MethodsThis multi-method study consists of a quantitative and a qualitative component. To evaluate differences in quality of care, a patient experience survey was sent to patients receiving usual care and to patients who received the SOS-SAH. A multiple linear regression model was applied, with the intervention group and case mix adjusters as independent variables. We described differences in the number of symptoms discussed between patients receiving usual care and those receiving care post-implementation. Following implementation, 16 patients and 6 healthcare professionals were interviewed about their perceptions concerning the impact of and barriers to using the SOS-SAH. A thematic analysis was performed to identify the main themes.ResultsThe survey did not reveal any differences between the usual-care group and the post-implementation group on the scales of the patient experience survey. After implementation of the SOS-SAH, the number of symptoms discussed during consultation did not increase. The interviews suggest that the SOS-SAH may improve the preparation of patients by providing them with greater insight into their complaints and by raising issues for the consultation. It could also enhance the structure and efficiency of consultation, in addition to improving communication about issues that matter to patients. All patients and healthcare professionals recommended continuing the use of the SOS-SAH in daily practice.ConclusionsAlthough no quantitative improvements were found in patient experience and symptoms discussed during consultation, implementation of the SOS-SAH could aid in screening for symptoms in patients after aSAH, and it might have a positive influence on patient preparation, while helping to structure consultations between patients and healthcare professionals.

Utility of Patient-Reported Symptom and Functional Outcomes to Indicate Recovery after First 90 Days of Radical Cystectomy: A Longitudinal Study.

This is a longitudinal prospective study that tracked multiple symptom burden and functioning status for bladder cancer (BLC) patients for 3 months post-radical cystectomy at The University of Texas MD Anderson Cancer Center, using a validated disease-specific patient-reported outcome measure (PROM) tool, the MD Anderson Symptom Inventory (the MDASI-PeriOp-BLC). The feasibility of collecting an objective measure for physical functioning, using "Timed Up & Go test" (TUGT) and PRO scores at baseline, discharge and end of study, was tested. Patients (n = 52) received care under an ERAS pathway. The more severe scores of fatigue, sleep disturbance, distress, drowsiness, frequent urination and urinary urgency at baseline predicted poor functional recovery postoperatively (OR = 1.661, 1.039-2.655, p = 0.034); other more severe symptoms at discharge (pain, fatigue, sleep disturbance, lack of appetite, drowsiness, bloating/abdominal tightness) predicted poor functional recovery (OR = 1.697, 1.114-2.584, p = 0.014) postoperatively. Compliance rates at preoperative, discharge and end of study were 100%, 79% and 77%, while TUGT completion rates were 88%, 54% and 13%, respectively. This prospective study found that more severe symptom burden at baseline and discharge is associated with poor functional recovery post-radical cystectomy for BLC. The collection of PROs is more feasible than using performance measures (TUGT) of function following radical cystectomy.

PCR8 Understanding and Assessing the Patient Experience of Symptoms for Polycystic Liver Disease (PLD): Development of a New Disease-Specific Symptom Patient-Reported Outcome Measure (PROM)

PLD is a rare condition in which multiple cysts develop in the liver. Approximately 20% of patients experience a high symptom burden. Limited patient-centered research exists for this condition, and much of the patient-reported data results from generic measures. To address this gap, a disease-specific PROM, the PLD-Symptom was developed.

PCR59 Understanding and Assessing the Patient-Reported Impact of Polycystic Liver Disease (PLD) on Functioning and Well-Being: Development of a New Disease-Specific Patient-Reported Outcome Measure (PROM)

PLD is a rare liver disease. Research on PLD health-related quality of life impacts is limited and mainly assessed using generic measures. Impacts may include limited mobility, decreased productivity, and emotional distress. To address this gap, the PLD-Impact (PLD-I), a disease-specific PROM, was developed.

The amyotrophic lateral sclerosis-health index (ALS-HI): development and evaluation of a novel outcome measure

Objective: The identification of effective therapeutics for ALS necessitates valid and responsive outcome measures to track disease progression and therapeutic gain in clinical trial settings. The Amyotrophic Lateral Sclerosis-Health Index (ALS-HI) is a multifaceted, disease-specific patient-reported outcome measure (PRO) designed to measure ALS symptomatic disease burden in adults with ALS. Methods: Through a national cross-sectional study of individuals with ALS, we identified the most important symptoms in ALS. These symptoms were incorporated into the ALS-HI, a measure that quantifies the multifaceted disease burden in ALS. We performed factor analysis, qualitative patient interviews, test-retest reliability assessment, and known groups analysis to evaluate and validate the ALS-HI. Results: The cross-sectional study included 497 participants with ALS who identified the most important symptoms to include in the ALS-HI. Fifteen participants beta tested the ALS-HI and found it to be clear, easy to use, and relevant. Twenty-one participants engaged in a test-retest reliability study, which indicated the reliability of the instrument (intraclass correlation coefficient = 0.952 for full instrument). The final ALS-HI and its subscales demonstrated a high internal consistency (Cronbach’s α = 0.981 for full instrument) and an ability to differentiate between groups with dissimilar disease severity. Conclusions: This research supports use of the ALS-HI as a valid, sensitive, reliable, and relevant PRO to assess the multifactorial disease burden faced by adults with ALS. The ALS-HI has potential as a mechanism to track disease progression and treatment efficacy during therapeutic trials.

The Limb Girdle Muscular Dystrophy Health Index (S7.003)

<h3>Objective:</h3> This study describes the development of the Limb Girdle Muscular Dystrophy Health Index (LGMDHI), a disease-specific patient-reported outcome measure designed for therapeutic trials. <h3>Background:</h3> Limb girdle muscular dystrophy (LGMD) is a group of rare muscular dystrophies caused by mutations in genes needed for muscle maintenance, repair and normal function. As therapeutic trials for LGMD take place, an objective measure of patient-reported disease burden is needed. <h3>Design/Methods:</h3> Participants were recruited from three LGMD registries: Coalition to Cure Calpain-3 (https://www.curecalpain3.org/registry/), the Jain Foundation (https://dysferlinregistry.jain-foundation.org/), and the Global FKRP (https://www.fkrp-registry.org/); and from the ongoing GRASP-LGMD consortium natural history study. All participants were aged &gt;18 years and had a diagnosis of genetically confirmed or clinically diagnosed LGMD. An initial survey was used to determine the importance and prevalence of 161 symptoms. Using survey data, expert review, factor analysis, and test-retest reliability we developed the LGMDHI. <h3>Results:</h3> In total, 163 individuals completed the initial survey. Following expert review, survey questions were eliminated based on a lack of perceived responsiveness to intervention (24), lack of generalizability (22), vague wording (7), unclear language (4), and redundancy (2). Subscales were created based on expert review and exploratory factor analysis. Test-retest reliability of the LGMDHI and its subscales was conducted with 32 participants. Five questions were eliminated due to a Cohen’s kappa below 0.5. Intraclass correlation coefficient (ICC) scores for the final subscales ranged from 0.61 to 0.96. The final version of the LGMDHI consists of 15 subscales and 97 questions that measure the 15 symptomatic themes of greatest importance to individuals with LGMD. <h3>Conclusions:</h3> The LGMDHI provides a valid and reliable outcome measure to assess patient-reported disease burden in LGMD. On behalf of the GRASP-LGMD Consortium. <b>Disclosure:</b> Ms. Stouffer has nothing to disclose. Mr. Bates has nothing to disclose. The institution of Dr. Thacker has received research support from NIH. Dr. Heatwole has received personal compensation for serving as an employee of Legal Med. Dr. Heatwole has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Virginia Commonwealth University. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Harmony. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as a Consultant for IRIS. Dr. Heatwole has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Recursion. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Avidity. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Takeda. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Pennsylvania Prop and Gas Ins. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Harmony. Dr. Heatwole has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for cytokinetics. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as a Consultant for scholar rock. Dr. Heatwole has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for neurocrine. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving as a Consultant for swan bio. Dr. Heatwole has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Scholar Rock. Dr. Heatwole has received personal compensation in the range of $5,000-$9,999 for serving as an Expert Witness for Legal Med. The institution of Dr. Heatwole has received research support from NIH. The institution of Dr. Heatwole has received research support from Recursion. The institution of Dr. Heatwole has received research support from MDA. The institution of Dr. Heatwole has received research support from PPMD. The institution of Dr. Heatwole has received research support from FARA. The institution of Dr. Heatwole has received research support from Curesma. The institution of Dr. Heatwole has received research support from ALSA. The institution of Dr. Heatwole has received research support from Huntington Study Group. The institution of Dr. Heatwole has received research support from department of defence. The institution of Dr. Heatwole has received research support from swan bio. The institution of Dr. Heatwole has received research support from Parent project. Dr. Heatwole has received intellectual property interests from a discovery or technology relating to health care. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Sarepta Therapuetics. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Dyne Therapeutics. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Vertex Pharma. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Triplet Therapuetics. Dr. Johnson has received personal compensation in the range of $50,000-$99,999 for serving as a Consultant for ML BIo . Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Acceleron. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Avidity. Dr. Johnson has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Arthex. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Juvena. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Entrada. Dr. Johnson has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Biogen. Dr. Johnson has stock in ML Bio. The institution of Dr. Johnson has received research support from AveXis. The institution of Dr. Johnson has received research support from Fulcrum. The institution of Dr. Johnson has received research support from AMO Pharma. The institution of Dr. Johnson has received research support from Sarepta. The institution of Dr. Johnson has received research support from Dyne Therapeutics. The institution of Dr. Johnson has received research support from Vertex . The institution of Dr. Johnson has received research support from Triplet Therapeutics. The institution of Dr. Johnson has received research support from ML Bio. The institution of Dr. Johnson has received research support from Vertex. The institution of Dr. Johnson has received research support from Entrada . Dr. Johnson has received intellectual property interests from a discovery or technology relating to health care.

Cross-sectional quantitative validation of the paediatric Localized Scleroderma Quality of Life Instrument (LoSQI): A disease-specific patient-reported outcome measure.

The Localized Scleroderma Quality of Life Instrument (LoSQI) is a disease-specific patient-reported outcome (PRO) measure designed for children and adolescents with localized scleroderma (LS; morphea). This tool was developed using rigorous PRO methods and previously cognitively tested in a sample of paediatric patients with LS. The purpose of this study was to evaluate the psychometric properties of the LoSQI in a clinical setting. Cross-sectional data from four specialized clinics in the US and Canada were included in the analysis. Evaluation included reliability of scores, internal structure of the survey, evidence of convergent and divergent validity, and test-retest reliability. One hundred and ten patients with LS (age: 8-20 years) completed the LoSQI. Both exploratory and confirmatory factor analysis supported the use of two sub-scores: Pain and Physical Functioning, and Body Image and Social Support. Correlations with other PRO measures were consistent with pre-specified hypotheses. This study did not evaluate longitudinal validity or responsiveness of scores. Results from a representative sample of children and adolescents with LS continue to support the validity of the LoSQI when used in a clinical setting. Future work to evaluate the responsiveness is ongoing.