scholarly journals Use of the patient-reported outcomes measurement information system (PROMIS®) to assess late-onset Pompe disease severity

2020 ◽  
Vol 4 (1) ◽  
Author(s):  
Melodi Harfouche ◽  
Priya S. Kishnani ◽  
Eva Krusinska ◽  
Jamie Gault ◽  
Sheela Sitaraman ◽  
...  
Keyword(s):  
Clinical Outcome ◽  
Outcome Measures ◽  
Pompe Disease ◽  
Patient Reported Outcomes ◽  
Vital Capacity ◽  
Late Onset ◽  
Walk Distance ◽  
Patient Reported ◽  
Minute Walk Distance ◽  
Minute Walk

Abstract Background Patient-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. Methods Thirty 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. Results The 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. Conclusions The 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.

scholarly journals Side-Alternating Vibration Training Improves Muscle Performance in a Patient with Late-Onset Pompe Disease

2009 ◽  
Vol 2009 ◽  
pp. 1-4 ◽  
Author(s):  
Aneal Khan ◽  
Barbara Ramage ◽  
Ion Robu ◽  
Laura Benard
Keyword(s):  
Pompe Disease ◽  
Late Onset ◽  
Knee Extensor ◽  
Muscle Performance ◽  
Item Score ◽  
Walk Distance ◽  
Enzyme Replacement ◽  
Vibration Training ◽  
Minute Walk Distance ◽  
Minute Walk

Side-alternating vibration training (SAVT) was used for 15 weeks in a patient with Late-onset Pompe disease who had never used enzyme replacement or chaperone therapy. Prior to the use of SAVT, the patient had experienced declining muscle performance and her 6-minute walk distance decreased from 210 to 155 metres in 6 months. After SAVT, her 6-minute walk distance increased 70% from 166 to 282 metres, muscle jumping power increased by 64% from 83 to 166 watts, isometric knee extensor strength increased 17% from 38 to 44 Nm, and she achieved a more normal pattern of ankle, knee, and joint kinematics and kinetics. Her functional ability measured through the Rotterdam 9-item score was unchanged at 19/36. There were no elevations in serum creatine kinase or lactate. This is the first report, to our knowledge, of a performance improvement in a patient with Pompe disease using SAVT.

scholarly journals Respiratory manifestations in late-onset Pompe disease: a case series conducted in Brazil

2017 ◽  
Vol 43 (1) ◽  
pp. 54-59 ◽  
Author(s):  
Bruna de Souza Sixel ◽  
Luanda Dias da Silva ◽  
Nicolette Celani Cavalcanti ◽  
Glória Maria Cardoso de Andrade Penque ◽  
Sandra Lisboa ◽  
...  
Keyword(s):  
Symptom Onset ◽  
Pompe Disease ◽  
Late Onset ◽  
Case Series ◽  
Definitive Diagnosis ◽  
Walk Distance ◽  
Enzyme Replacement ◽  
Initial Symptoms ◽  
Minute Walk Distance ◽  
Minute Walk

ABSTRACT Objective: To describe respiratory function in a series of patients with late-onset Pompe disease after the definitive diagnosis and before enzyme replacement therapy. Methods: This was a cross-sectional study involving patients with a definitive molecular diagnosis of late-onset Pompe disease. The data analyzed included age at symptom onset; age at definitive diagnosis; type of initial symptoms; time from symptom onset to diagnosis; FVC in the sitting and supine positions; six-minute walk distance; and locomotor ability. Analyses were carried out using frequencies, medians, minimum values, and maximum values. Results: Six patients were included in the study. The median age at symptom onset was 15 years (range, 13-50 years), and the median age at diagnosis was 39.5 years (range, 10-64 years). The median time from symptom onset to diagnosis was 8 years (range, 0-45 years). In all cases, the initial manifestation of the disease had been motor weakness. The median FVC in percentage of the predicted value (FVC%) in the sitting and supine positions was 71.0% (range, 22.9-104.6%) and 58.0% (range, 10.9-106.9%), respectively. The median ΔFVC% was 24.5% (range, −4.59 to 52.40%).The median six-minute walk distance was 391.7 m (range, 97-702 m) . Conclusions: In this case series, the time from symptom onset to diagnosis was long. Although respiratory signs or symptoms were not the initial manifestations of the disease, 66.7% of the patients showed reduced FVC% in the sitting and supine positions at diagnosis.

scholarly journals Outcome measures in coeliac disease trials: the Tampere recommendations

Gut ◽  
2018 ◽  
Vol 67 (8) ◽  
pp. 1410-1424 ◽  
Author(s):  
Jonas F Ludvigsson ◽  
Carolina Ciacci ◽  
Peter HR Green ◽  
Katri Kaukinen ◽  
Ilma R Korponay-Szabo ◽  
...  
Keyword(s):  
Clinical Outcome ◽  
Coeliac Disease ◽  
Outcome Measures ◽  
Patient Reported Outcomes ◽  
Treatment Strategies ◽  
Therapeutic Trials ◽  
Immunogenic Peptides ◽  
Patient Reported ◽  
Patient Representatives

ObjectiveA gluten-free diet is the only treatment option of coeliac disease, but recently an increasing number of trials have begun to explore alternative treatment strategies. We aimed to review the literature on coeliac disease therapeutic trials and issue recommendations for outcome measures.DesignBased on a literature review of 10 062 references, we (17 researchers and 2 patient representatives from 10 countries) reviewed the use and suitability of both clinical and non-clinical outcome measures. We then made expert-based recommendations for use of these outcomes in coeliac disease trials and identified areas where research is needed.ResultsWe comment on the use of histology, serology, clinical outcome assessment (including patient-reported outcomes), quality of life and immunological tools including gluten immunogenic peptides for trials in coeliac disease.ConclusionCareful evaluation and reporting of outcome measures will increase transparency and comparability of coeliac disease therapeutic trials, and will benefit patients, healthcare and the pharmaceutical industry.

scholarly journals Characteristics and health status of patients with and without confirmed HFpEF

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
C Deaton ◽  
F Forsyth ◽  
J Mant ◽  
D Edwards ◽  
R Hobbs ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Primary Care ◽  
Cohort Study ◽  
Health Status ◽  
Functional Impairment ◽  
Funding Source ◽  
Walk Distance ◽  
Minute Walk Distance ◽  
Minute Walk

Abstract Aims Patients with heart failure with preserved ejection fraction (HFpEF) are usually older and multi-morbid and diagnosis can be challenging. The aims of this cohort study were to confirm diagnosis of HFpEF in patients with possible HFpEF recruited from primary care, to compare characteristics and health status between those with and without HFpEF, and to determine factors associated with health status in patients with HFpEF. Methods Patients with presumed HFpEF were recruited from primary care practices and underwent clinical assessment and diagnostic evaluation as part of a longitudinal cohort study. Health status was measured by Montreal Cognitive Assessment (MOCA), 6-minute walk test, symptoms, and the Kansas City Cardiomyopathy Questionnaire (KCCQ), and quality of life (QoL) by EQ-5D-5L visual analogue scale (VAS). Results 151 patients (mean age 78.5±8.6 years, 40% women, mean EF 56% + 9.4) were recruited and 93 (61.6%) were confirmed HFpEF (those without HFpEF had other HF and cardiac diagnoses). Patients with and without HFpEF did not differ by age, MOCA, blood pressure, heart rate, NYHA class, proportion with atrial fibrillation, Charlson Comorbidity Index, or NT-ProBNP levels. Patients with HFpEF were more likely to be women, overweight or obese, frail, and to be more functionally impaired by 6 minute walk distance and gait speed than those without. Although not statistically significant, patients with HFpEF had clinically significant differences (>5 points) on the physical limitations, symptom burden and clinical summary subscales of the KCCQ, but did not differ by other subscales or by EQ-5D-5L VAS (70±17 vs 73±19, p=0.385). More patients with HFpEF reported daytime dyspnoea (63% vs 46%, p=0.035) and fatigue (81% vs 61%, p=0.008), but not other symptoms compared to those without HFpEF. For both groups BMI was moderately negatively correlated with KCCQ subscale scores, and 6 minute walk distance was positively correlated with KCCQ subscales. Conclusions Nearly 40% were not confirmed as HFpEF indicating the challenges of diagnosis. Patients with confirmed HFpEF differed by sex, overweight/obesity, frailty, functional impairment, and symptoms but not by age or comorbidities from those without HFpEF. These differences were reflected in some subscale scores of the KCCQ, but not how patients reported their quality of life on the KCCQ QoL subscale and EQ-5D-5L VAS. Older patients with HFpEF reported relatively high QoL despite poor health status by functional impairment, frailty and symptoms. Funding Acknowledgement Type of funding source: Public grant(s) – National budget only. Main funding source(s): National Institute of Health Research School of Primary Care Research

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