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Positive association between physical outcomes and patient-reported outcomes in late-onset Pompe disease: a cross sectional study.

ABSTRACT: BACKGROUND:Pompe disease is a rare, progressive metabolic myopathy. The aim of this study is to investigate the associations of physical outcomes with patient-reported outcome measures (PROMs) in late-onset Pompe disease. METHODS:We included 121 Dutch adult patients with Pompe disease. Physical outcomes comprised muscle strength (manual muscle testing using Medical Research Council [MRC] grading, hand-held dynamometry [HHD]), walking ability (6-min walk test [6MWT]), and pulmonary function (forced vital capacity [FVC] in upright and supine positions). PROMs comprised quality of life (Short Form 36 health survey [SF-36]), participation (Rotterdam Handicap Scale [RHS]) and daily-life activities (Rasch-Built Pompe-Specific Activity [R-PAct] Scale). Analyses were cross-sectional: the time-point before, and closest to, start of Enzyme Replacement Therapy was chosen. Associations between PROMs and physical outcomes were investigated using linear regression models. RESULTS:RHS and R-PAct scores were better in patients with higher FVC supine and upright, HHD, MRC and 6MWT scores, accounting for the effect of sex, disease duration, use of wheelchair and ventilator support. While the SF-36 Physical Component Summary (PCS) was correlated positively with FVC upright, HHD, MRC and 6MWT scores, there was no significant relationship between the SF-36 Mental Component Summary (MCS) and any of the physical outcomes. CONCLUSIONS:Participation, daily-life activities, and the physical component of quality of life of adult Pompe patients are positively correlated to physical outcomes. This work serves as a first step towards assessing how changes over time in physical outcomes are related to changes in PROMs, and to define the minimal change in physical outcomes required to make an important difference for the patient.

SUBMITTER: Yuan M

PROVIDER: S-EPMC7469279 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature

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Positive association between physical outcomes and patient-reported outcomes in late-onset Pompe disease: a cross sectional study.

Yuan Meng M Andrinopoulou Eleni-Rosalina ER Kruijshaar Michelle E ME Lika Aglina A Harlaar Laurike L van der Ploeg Ans T AT Rizopoulos Dimitris D van der Beek Nadine A M E NAME

Orphanet journal of rare diseases 20200903 1

<h4>Background</h4>Pompe disease is a rare, progressive metabolic myopathy. The aim of this study is to investigate the associations of physical outcomes with patient-reported outcome measures (PROMs) in late-onset Pompe disease.<h4>Methods</h4>We included 121 Dutch adult patients with Pompe disease. Physical outcomes comprised muscle strength (manual muscle testing using Medical Research Council [MRC] grading, hand-held dynamometry [HHD]), walking ability (6-min walk test [6MWT]), and pulmonary ...[more]

PMID: 32883321

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Project description:BackgroundPatient-Reported Outcomes provide an opportunity for patients to establish dialogue with pharmaceutical or biotechnology companies about their health conditions without interpretation by a clinician or anyone else. However, Patient-Reported Outcomes that can be widely applicable for use in patient-focused drug development or clinical trial designs are not yet validated for all diseases. The aim of this study report was to provide supportive evidence of the construct and content validity of selected Patient-Reported Outcomes Measurement Information System (PROMIS®) questionnaires compared with other disease-relevant clinical outcome measures, including the 6-Minute Walk Distance, forced vital capacity, and Manual Muscle Test, in late-onset Pompe disease and to provide supportive evidence that the selected PROMIS measures are relevant and important to these patients.MethodsThirty patients with late-onset Pompe disease completed five PROMIS questionnaires that were chosen based on patient and provider feedback, along with discussion with key opinion leaders who are experts in Pompe disease. The Amicus Pompe Patient Advisory Board also provided patient experience feedback using the PROMIS questionnaires. Clinical outcome measures (6-Minute Walk Distance, forced vital capacity, and Manual Muscle Test) were collected at the Duke University Pompe Disease Clinical Research Program during a single visit.ResultsThe Patient Advisory Board rated the questionnaires as representative of an unmet need. Correlation data demonstrated moderate to strong correlations of PROMIS questionnaires with the specified clinical outcome measures (6-Minute Walk Distance, forced vital capacity, and Manual Muscle Test). These data supported the construct and content validity of the PROMIS questionnaires because they confirmed the motor signs and symptoms of functional disability observed in patients with Pompe disease.ConclusionsThe correlations indicate that the clinical outcome measures assess important concepts related to patient-reported experiences. The Patient Advisory Board findings suggest that the selected PROMIS questionnaires are meaningful and address important concepts to patients with Pompe disease. The data were collected from a small number of patients at a single time point; further studies are needed with additional PROMIS questionnaires, which should include measures of motor function and health-related quality of life, in a larger number of patients followed up longitudinally.

Project description:BackgroundLate-onset Pompe Disease (LOPD) is a rare, heterogeneous disease manifested by a range of symptoms varying in severity. Research establishing the frequency of these symptoms and their impact on patients' daily lives is limited. The objective of this study was to develop a conceptual model that captures the most relevant symptoms and functional limitations experienced by patients with LOPD, to inform the development of new patient-reported outcome (PRO) tools.MethodsA preliminary conceptual model was constructed following a literature review and revised through interviews with expert clinicians to identify important and relevant concepts regarding symptoms and impacts of LOPD. This preliminary model informed the development of a qualitative patient interview guide, which was used to gather the patient perspective on symptoms and impacts relating to LOPD or its treatment (including symptom/impact frequency and levels of disturbance). Patient interviews aided further refinement of the conceptual model. The findings from the patient interviews were triangulated with the literature review and clinician interviews to identify the most relevant and significant effects of LOPD from the patient perspective.ResultsMuscle weakness, fatigue, pain, and breathing difficulties (especially while lying down) were the most common and highly disturbing symptoms experienced by patients. Limitations associated with mobility (e.g., difficulty rising from a sitting position, getting up after bending) and activities of daily living, (e.g., reduced ability to participate in social/family activities or work/study) were the most frequently reported impacts with the highest levels of disturbance on the patient's daily life. These identified symptoms and impacts were included in the new conceptual model of disease.ConclusionsThis qualitative patient interview study, also informed by a literature review and clinician interviews, identified the most frequent and relevant symptoms and the functional impact of LOPD on patients. The study interviews also captured the patient-preferred language to describe symptoms and impacts of LOPD. The results from this study can be used to develop future PRO instruments that are tailored to the specific symptoms and impacts experienced by patients with LOPD.

Project description:BackgroundElectronic patient-reported outcome (PROs) provides a fast and reliable assessment of a patient's health-related quality of life. Nevertheless, using PRO in the traditional paper format is not practical for clinical practice due to the limitations associated with data analysis and management. A questionnaire app was developed to address the need for a practical way to group and use distress and physical activity assessment tools.ObjectiveThe purpose of this study was to assess the level of agreement between electronic (mobile) and paper-and-pencil questionnaire responses.MethodsWe validated the app version of the distress thermometer (DT), International Physical Activity Questionnaire (IPAQ), and Patient Health Questionnaire-9 (PHQ-9). A total of 102 participants answered the paper and app versions of the DT and IPAQ, and 96 people completed the PHQ-9. The study outcomes were the correlation of the data between the paper-and-pencil and app versions.ResultsA total of 106 consecutive breast cancer patients were enrolled and analyzed for validation of paper and electronic (app) versions. The Spearman correlation values of paper and app surveys for patients who responded to the DT questionnaire within 7 days, within 3 days, and on the same day were .415 (P<.001), .437 (P<.001), and .603 (P<.001), respectively. Similarly, the paper and app survey correlation values of the IPAQ total physical activity metabolic equivalent of task (MET; Q2-6) were .291 (P=.003), .324 (P=.005), and .427 (P=.01), respectively. The correlation of the sum of the Patient Health Questionnaire-9 (Q1-9) according to the time interval between the paper-based questionnaire and the app-based questionnaire was .469 for 14 days (P<.001), .574 for 7 days (P<.001), .593 for 3 days (P<.001), and .512 for the same day (P=.03). These were all statistically significant. Similarly, the correlation of the PHQ (Q10) value according to the time interval between the paper-based questionnaire and the app-based questionnaire was .283 for 14 days (P=.005), .409 for 7 days (P=.001), .415 for 3 days (P=.009), and .736 for the same day (P=.001). These were all statistically significant. In the overall trend, the shorter the interval between the paper-and-pencil questionnaire and the app-based questionnaire, the higher the correlation value.ConclusionsThe app version of the distress and physical activity questionnaires has shown validity and a high level of association with the paper-based DT, IPAQ (Q2-6), and PHQ-9. The app-based questionnaires were not inferior to their respective paper versions and confirm the feasibility for their use in clinical practice. The high correlation between paper and mobile app data allows the use of new mobile apps to benefit the overall health care system.Trial registrationClinicalTrials.gov NCT03072966; https://clinicaltrials.gov/ct2/show/NCT03072966.

Project description:BackgroundWith advancements in and the evolution of the medical field, several methods and surgical techniques have been developed for breast reconstruction after mastectomy. Generally, we can categorize these strategies into two broad groups: autologous reconstruction and implant-based reconstruction. This study aimed to analyze the satisfaction rate between these groups, considering age, timing of breast reconstruction, body mass index (BMI), major complications, and the need for radiotherapy or chemotherapy.Materials and methodsAll the patients who underwent a mastectomy and subsequent breast reconstruction surgery at our institution between August 1, 2013, and August 31, 2017, were invited to complete a BREAST-Q questionnaire. To compare the quality of life and complication rate between the autologous and implant-based reconstruction groups, data were collected from specific patients. All participants completed the Arabic version of the postoperative reconstruction module.ResultsAmong 61 patients, 43 (70.5%) completed the two domains of the BREAST-Q questionnaire, about the satisfaction with the implanted breast and satisfaction with the surgical outcome. These patients were divided into two groups: autologous (n = 21) and implant-based (n = 22) groups. The mean score of satisfaction with the implanted breast was 43.5 for the autologous group and 39.6 for the implant-based group. For the surgical outcome, the scores for the autologous and implant-based groups were 45.4 and 56.0, respectively. However, there was neither a statistical significance in the satisfaction with the implanted breast nor the surgical outcome between the two groups.ConclusionAlthough there are many different surgical techniques to reconstruct a breast after mastectomy, there is still no specific surgical method that is perfect or well-suited for all patients undergoing breast reconstruction surgery. In our study, we found that there was no significant difference in satisfaction between the ABR and IBR group.

Dataset Information

Positive association between physical outcomes and patient-reported outcomes in late-onset Pompe disease: a cross sectional study.

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Positive association between physical outcomes and patient-reported outcomes in late-onset Pompe disease: a cross sectional study.

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