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Patient reported outcomes in GNE myopathy: incorporating a valid assessment of physical function in a rare disease.

ABSTRACT: BACKGROUND:The aim of this analysis was to evaluate the psychometric properties of three patient reported outcome (PRO) measures characterizing physical function in GNE myopathy: the Human Activity Profile, the Inclusion Body Myositis Functional Rating Scale, and the Activities-specific Balance Confidence scale. METHODS:This analysis used data from 35 GNE myopathy subjects participating in a natural history study. For construct validity, correlational and known-group analyses were between the PROs and physical assessments. Reliability of the PROs between baseline and 6 months was evaluated using the intra-class correlation coefficient model; internal consistency was tested with Cronbach's alpha. RESULTS:The hypothesized moderate positive correlations for construct validity were supported; the strongest correlation was between the human activity profile adjusted activity score and the adult myopathy assessment endurance subscale score (r?=?0.81; p??0.8) and there was strong reliability (ICC >0.62). CONCLUSION:The PROs are valid and reliable measures of physical function in GNE myopathy and should be incorporated in investigations to better understand the impact of progressive muscle weakness on physical function in this rare disease population. Implications for Rehabilitation GNE myopathy is a rare muscle disease that results in slow progressive muscle atrophy and weakness, ultimately leading to wheelchair use and dependence on a caregiver. There is limited knowledge on the impact of this disease on the health-related quality of life, specifically physical function, of this rare disease population. Three patient reported outcomes have been shown to be valid and reliable in GNE myopathy subjects and should be incorporated in future investigations to better understand how progressive muscle weakness impacts physical functions in this rare disease population. The patient reported outcome scores of GNE myopathy patients indicate a high risk for falls and impaired physical functioning, so it is important clinicians assess and provide interventions for these subjects to maintain their functional capacity.

SUBMITTER: Slota C

PROVIDER: S-EPMC6166247 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature

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Patient reported outcomes in GNE myopathy: incorporating a valid assessment of physical function in a rare disease.

Slota Christina C Bevans Margaret M Yang Li L Shrader Joseph J Joe Galen G Carrillo Nuria N

Disability and rehabilitation 20170207 10

<h4>Background</h4>The aim of this analysis was to evaluate the psychometric properties of three patient reported outcome (PRO) measures characterizing physical function in GNE myopathy: the Human Activity Profile, the Inclusion Body Myositis Functional Rating Scale, and the Activities-specific Balance Confidence scale.<h4>Methods</h4>This analysis used data from 35 GNE myopathy subjects participating in a natural history study. For construct validity, correlational and known-group analyses were ...[more]

PMID: 28637129

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Project description:GNE myopathy is a slowly progressive autosomal recessive myopathy caused by mutations in the GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) gene. This study aimed to (1) develop a nationwide patient registry for GNE myopathy in order to facilitate the planning of clinical trials and recruitment of candidates, and (2) gain further insight into the disease for the purpose of improving therapy and care.Medical records of genetically-confirmed patients with GNE myopathy at the National Center Hospital of the National Center of Neurology and Psychiatry (NCNP) were retrospectively reviewed in order to obtain data reflecting the severity and progression of the disease. We also referred to items in the datasheet of the nationwide registry of dystrophinopathy patients in the Registry of Muscular Dystrophies (Remudy). Items selected for the registration sheet included age, sex, age at onset, past history and complications, family history, body weight and height, pathological findings of muscle biopsy, grip power, walking ability, respiratory function, cardiac function, willingness to join upcoming clinical trials, and participation in patient associations. A copy of the original genetic analysis report was required of each patient.We successfully established the Remudy-GNE myopathy. Currently, 121 patients are registered nationwide, and 93 physicians from 73 hospitals collaborated to establish the registry. The mean age at onset was 27.7?±?9.6 years, and 19.8% (24/121) of patients could walk without assistance. Mean presumed durations from onset to use of assistive devices (cane and/or braces) and a wheelchair, and loss of ambulation were 12.4, 15.2, and 21.1 years, respectively. Three patients had a past history and/or complication of idiopathic thrombocytopenia. To share the progress of this study with the community, newsletters were published on a regular basis, and included information regarding new phase I clinical trials for GNE myopathy. The newsletters also served as a medium to bring attention to the importance of respiratory evaluation and care for respiratory insufficiency.The Japanese Remudy-GNE myopathy is useful for clarifying the natural history of the disease and recruiting patients with genetically-confirmed GNE myopathy for clinical trials.

Project description:BackgroundWhen assessing the efficacy of a treatment in any clinical trial, it is recommended by the International Conference on Harmonisation to select a single meaningful endpoint. However, a single endpoint is often not sufficient to reflect the full clinical benefit of a treatment in multifaceted diseases, which is often the case in rare diseases. Therefore, the use of a combination of several clinically meaningful outcomes is preferred. Many methodologies that allow for combining outcomes in a so-called composite endpoint are however limited in a number of ways, not in the least in the number and type of outcomes that can be combined and in the poor small-sample properties. Moreover, patient reported outcomes, such as quality of life, often cannot be integrated in a composite analysis, in spite of their intrinsic value.ResultsRecently, a class of non-parametric generalized pairwise comparisons tests have been proposed, which members do allow for any number and type of outcomes, including patient reported outcomes. The class enjoys good small-sample properties. Moreover, this very flexible class of methods allows for prioritizing the outcomes by clinical severity, allows for matched designs and for adding a threshold of clinical relevance. Our aim is to introduce the generalized pairwise comparison ideas and concepts for rare disease clinical trial analysis, and demonstrate their benefit in a post-hoc analysis of a small-sample trial in epidermolysis bullosa. More precisely, we will include a patient relevant outcome (Quality of life), in a composite endpoint. This publication is part of the European Joint Programme on Rare Diseases (EJP RD) series on innovative methodologies for rare diseases clinical trials, which is based on the webinars presented within the educational activity of EJP RD. This publication covers the webinar topic on composite endpoints in rare diseases and includes participants' response to a questionnaire on this topic.ConclusionsGeneralized pairwise comparisons is a promising statistical methodology for evaluating any type of composite endpoints in rare disease trials and may allow a better evaluation of therapy efficacy including patients reported outcomes in addition to outcomes related to the diseases signs and symptoms.

Project description:BackgroundTotal joint arthroplasty (TJA) registries traditionally have focused on implant longevity and rates of revision surgery. Registries would benefit from the addition of standardized patient-reported outcomes (PROs) such as pain relief and improved physical function. However, PROs have not been routinely adopted, and their incorporation into TJA registries presents challenges.Questions/purposesWe review current PRO use by existing national registries, challenges to integrating PROs in national registries, lessons from national registries that have integrated PROs, and suggestions to guide future adoption of PROs.MethodsWe conducted a literature search of papers addressing PRO use in national knee and hip arthroplasty registries, resulting in 15 articles. These publications were supplemented by discussions with thought leaders from international registries. WHERE ARE WE NOW?: Some national TJA registries are collecting PROs and valuable research is emerging. However, challenges exist, such as selecting suitable PROs, selection bias in countries without government-mandated participation for all hospitals, and challenges with missing data. WHERE DO WE NEED TO GO?: The ideal system will incorporate PROs into TJA registries. In so doing, it will be important to choose suitable PROs and develop innovative methods to collect PROs to ensure complete data and sustainability. HOW DO WE GET THERE?: New methods are required to meet the challenges related to registry design, logistics of PRO collection, and registry cost and sustainability. Modifications to the traditional hospital- and implant-centric design and new procedures to collect complete data from both patients and clinicians may be necessary. For instance, England and Wales, New Zealand, and Sweden developed methods to collect PROs after TJA directly from patients and a US TJA registry collects PROs as the primary outcome. Finally, to assure long-term sustainability, PRO data must be valuable to multiple stakeholders, including patients, clinicians, researchers, and policy makers.

Dataset Information

Patient reported outcomes in GNE myopathy: incorporating a valid assessment of physical function in a rare disease.

Publications

Patient reported outcomes in GNE myopathy: incorporating a valid assessment of physical function in a rare disease.

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