Assessing the Appropriateness of the EQ-5D for Duchenne Muscular Dystrophy: A Patient-Centered Study

2021 ◽  
Vol 41 (2) ◽  
pp. 209-221
Author(s):  
Norah L. Crossnohere ◽  
Ryan Fischer ◽  
Andrew Lloyd ◽  
Lisa A. Prosser ◽  
John F. P. Bridges
Keyword(s):  
Health Status ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
The United States ◽  
Neuromuscular Disorder ◽  
Face Validity ◽  
Health State ◽  
Patient Centered ◽  
Cross Sectional ◽  
Eq Vas

Background Duchenne muscular dystrophy is a rare degenerative neuromuscular disorder with pediatric onset. Recent approvals in Duchenne have placed attention on the economic evaluation in pricing and reimbursement decisions across a range of rare conditions. We sought to assess the appropriateness of the EQ-5D, a common measure of generic health state utility, for use among patients and caregivers affected by Duchenne. Methods An international, cross-sectional sample of adults with Duchenne and caregivers reported patient health status using self- or proxy-reported EQ-5D-3L. Appropriateness was assessed across 6 domains of concern raised by stakeholders in Duchenne. These concerns were that the EQ-5D/EQ-VAS would not capture meaningful differences in health status, correlate with disease-specific measures, reflect real health status, exhibit face validity, be accurately interpreted, and be low burden. We evaluated these concerns by comparing EQ-5D index score and EQ-VAS scores to other condition-specific functional measures and open- and closed-ended questions. Results In total, 263 participants (74% response) completed the survey, 24% of whom were adult patients. Most participants lived in the United States or United Kingdom (58%). Patient age ranged from 1 to 48 y. EQ-5D index was higher in ambulatory than nonambulatory patients (0.60 v. 0.30, P < 0.001) and was negatively correlated with upper limb impairment ( r = 0.61, P < 0.001). Three-quarters of respondents agreed that EQ-5D measured real health status (74%). Most respondents interpreted EQ-VAS anchors of best and worst imaginable health as full health (61%) and death/near death (58%). Respondents indicated the EQ-5D was easy to understand (86%) and answer (71%). Conclusions Contrary to anecdotal concerns, we found support for the appropriateness of EQ-5D to assess health status in Duchenne. While other measures may be more sensitive to specific outcomes in Duchenne, there may be some value in results using the EQ-5D measure.

scholarly journals Longitudinal metabolomic analysis of plasma enables modeling disease progression in Duchenne muscular dystrophy mouse models

2020 ◽  
Vol 29 (5) ◽  
pp. 745-755 ◽  
Author(s):  
Roula Tsonaka ◽  
Mirko Signorelli ◽  
Ekrem Sabir ◽  
Alexandre Seyer ◽  
Kristina Hettne ◽  
...  
Keyword(s):  
Longitudinal Study ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Mouse Models ◽  
Neuromuscular Disorder ◽  
Mdx Mice ◽  
Cross Sectional ◽  
New Associations ◽  
Metabolomic Data ◽  
Oxide Synthase

Abstract Duchenne muscular dystrophy is a severe pediatric neuromuscular disorder caused by the lack of dystrophin. Identification of biomarkers is needed to support and accelerate drug development. Alterations of metabolites levels in muscle and plasma have been reported in pre-clinical and clinical cross-sectional comparisons. We present here a 7-month longitudinal study comparing plasma metabolomic data in wild-type and mdx mice. A mass spectrometry approach was used to study metabolites in up to five time points per mouse at 6, 12, 18, 24 and 30 weeks of age, providing an unprecedented in depth view of disease trajectories. A total of 106 metabolites were studied. We report a signature of 31 metabolites able to discriminate between healthy and disease at various stages of the disease, covering the acute phase of muscle degeneration and regeneration up to the deteriorating phase. We show how metabolites related to energy production and chachexia (e.g. glutamine) are affected in mdx mice plasma over time. We further show how the signature is connected to molecular targets of nutraceuticals and pharmaceutical compounds currently in development as well as to the nitric oxide synthase pathway (e.g. arginine and citrulline). Finally, we evaluate the signature in a second longitudinal study in three independent mouse models carrying 0, 1 or 2 functional copies of the dystrophin paralog utrophin. In conclusion, we report an in-depth metabolomic signature covering previously identified associations and new associations, which enables drug developers to peripherally assess the effect of drugs on the metabolic status of dystrophic mice.

scholarly journals Quality of Life and Its Correlates Among Clients Visiting Antiretroviral Therapy Clinics in Addis Ababa, Ethiopia

2021 ◽  
Author(s):  
Tariku Shimels ◽  
Gelila Bogale ◽  
Rodas Asrat ◽  
Teferi Gedif
Keyword(s):  
Quality Of Life ◽  
Health Status ◽  
Addis Ababa ◽  
Multidisciplinary Treatment ◽  
Considerable Proportion ◽  
Health State ◽  
Cross Sectional ◽  
Eq Vas ◽  
Overall Health Status

Abstract Background: As a chronic illness with potential complications in physical, emotional, social, and economic aspects, HIV poses deterioration in patients’ quality of life.The aim of this study was to assess status of the functional and current quality of life, and associated factors among clients visiting ART clinics in Addis Ababa, Ethiopia. Methods: A multi-site cross-sectional study was conducted in August 2020. All adults with HIV and on active ART at least for 6 months earlier to the study period, and visiting the selected public health facilities were considered. Facilities were selected purposively, and clients were enrolled using a systematic random sampling technique after a proportion to size allocation. Data were collected using a modified and translated questionnaire of the EQ 5D and EQ-VAS. The analysis was done using SPSS v.26 for windows. Descriptive statistics and non-parametric inferential tests namely; Mann Whitney U test, Kruskal Wallis test, and Spearman’s correlation tests were carried out to test the presence of correlates with dependent variables. Ethical approval was sought from Saint Paul’s Hospital Millennium Medical College and Addis Ababa regional health bureau. Results: Out of 371 clients, the majority were from health centers (58%), aged 43 years or below (54%), males (63%), either with primary or secondary education (61%) and married (46.6%) while half were either government or private employees. Pain/discomfort and depression/anxiety were the dimensions most affected with predominance in the age group above 43. The mean score of EQ 5D index values was 0.87 (SD: ±0.05; 95% C.I; 0.86-0.87) and that of EQ-VAS was 81 (SD: ±15, 95% C.I: 80-83). About 38% and 43% of the clients showed an altered health state of any degree in functional and current overall status respectively. Comorbidity, history of current substance use, facility type, social support, and sleep disturbance showed a statistically significant correlation with the functional and current overall health status. Conclusion: A considerable proportion of clients have altered functional and overall health status with pain/discomfort and depression/anxiety most affected. Inclusion of multidisciplinary treatment for HIV and the highlighting of psychosocial issues that are likely amongst this group are warranted.

Patient-centered benefit-risk assessment in duchenne muscular dystrophy

2017 ◽  
Vol 55 (5) ◽  
pp. 626-634 ◽  
Author(s):  
Ilene L. Hollin ◽  
Holly L. Peay ◽  
Susan D. Apkon ◽  
John F.P. Bridges
Keyword(s):  
Risk Assessment ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Patient Centered ◽  
Benefit Risk Assessment

scholarly journals Autonomic modulation at rest and in response to postural change in adolescents with Duchenne muscular dystrophy: a cross-sectional study

2021 ◽  
Vol 79 (9) ◽  
pp. 766-773
Author(s):  
Mariana Viana Rodrigues ◽  
Mileide Cristina Stoco-Oliveira ◽  
Talita Dias da Silva ◽  
Celso Ferreira ◽  
Heloisa Balotari Valente ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Heart Rate ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Oxygen Saturation ◽  
Cross Sectional Study ◽  
Control Group ◽  
Autonomic Modulation ◽  
Postural Change ◽  
Cross Sectional

ABSTRACT Background: Analysis of autonomic modulation after postural change may inform the prognosis and guide treatment in different populations. However, this has been insufficiently explored among adolescents with Duchenne muscular dystrophy (DMD). Objective: To investigate autonomic modulation at rest and in response to an active sitting test (AST) among adolescents with DMD. Methods: Fifty-nine adolescents were included in the study and divided into two groups: 1) DMD group: adolescents diagnosed with DMD; 2) control group (CG): healthy adolescents. Participants’ weight and height were assessed. Lower limb function, motor limitations and functional abilities of the participants in the DMD group were classified using the Vignos scale, Egen classification and motor function measurement, respectively. The following variables were assessed before, during and after AST: systolic blood pressure (SBP), diastolic blood pressure (DBP), respiratory rate (f), oxygen saturation and heart rate (HR). To analyze the autonomic modulation, the HR was recorded beat-by-beat. Heart rate variability (HRV) indices were calculated in the time and frequency domains. Results: Differences in relation to groups were observed for all HRV indices, except LF/HF, oxygen saturation, HR and f (p < 0.05). Differences in relation to time and the interaction effect between group and time were observed for RMSSD, SD1, SD2, SD1/SD2, LFms2 and LFnu, HFun, SBP and DBP (p < 0.05). Differences in relation to time were also observed for the indice SDNN, FC and f (p < 0.05). Conclusions: Performing the AST promoted reduced autonomic modulation and increased SBP, DBP and HR in adolescents with DMD.

scholarly journals AYURVEDIC MANAGEMENT OF DUCHENNE MUSCULAR DYSTROPHY: A SHORT REVIEW

2019 ◽  
Vol 7 (1) ◽  
pp. 179-183
Author(s):  
Akshay A Patankar ◽  
Renu B Rathi
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Social Contact ◽  
Signs And Symptoms ◽  
Short Review ◽  
Receptive Language ◽  
Modern Medicine ◽  
Autism Spectrum ◽  
Neuromuscular Disorder ◽  
Significant Treatment

Duchenne muscular dystrophy is a neuromuscular disorder characterized by deficient dystrophin protein in the muscle. The main symptoms the patient presented were delay in expressive and receptive language development, visual discontent, hyperkinetic behaviour, and inability to initiate and maintain social contact with peers. The data obtained from the family, following clinical examination, laboratory investigation results and assessment of mental status were significant for the diagnosis of Autism Spectrum Disorder, hyperkinetic behaviour and Duchenne Muscular Dystrophy. In Ayurveda it has been classified under Medomamsa dusti further vitiates the Vata doshas occurs due to the Bheejabagahaavyava Dusti. In modern medicine there is no significant treatment available for this diseases while in Ayurvedic panchakrma therapy shows significant results in all signs and symptoms of this diseases.

Linguistic Integration and Immigrant Health: The Longitudinal Effects of Interethnic Social Capital

2018 ◽  
Vol 59 (2) ◽  
pp. 215-230 ◽  
Author(s):  
Mesay A. Tegegne
Keyword(s):  
Social Capital ◽  
Health Status ◽  
Immigrant Health ◽  
English Language ◽  
Language Use ◽  
The United States ◽  
Cross Sectional ◽  
Linguistic Integration ◽  
The Relationship

The literature on immigrant health has by and large focused on the relationship between acculturation (often measured by a shift in language use) and health outcomes, paying less attention to network processes and the implications of interethnic integration for long-term health. This study frames English-language use among immigrants in the United States as a reflection of bridging social capital that is indicative of social network diversity. Using longitudinal data on self-rated health and the incidence of chronic conditions from the New Immigrant Survey (2003, 2007), I examine the contemporaneous and longitudinal associations between interethnic social capital and health. The results show evidence for a positive long-term effect of linguistic integration on health status, but no cross-sectional associations were observed. Overall, these results highlight the possible role of network processes in linking English-language use with immigrant health and the time-dependent nature of the relationship between linguistic integration and health status.

scholarly journals CRISPR-Generated Animal Models of Duchenne Muscular Dystrophy

Genes ◽  
2020 ◽  
Vol 11 (3) ◽  
pp. 342 ◽  
Author(s):  
Kenji Rowel Q. Lim ◽  
Quynh Nguyen ◽  
Kasia Dzierlega ◽  
Yiqing Huang ◽  
Toshifumi Yokota
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Animal Models ◽  
Mechanical Stress ◽  
Muscle Cell ◽  
Neuromuscular Disorder ◽  
Reading Frame ◽  
Advantages And Disadvantages ◽  
Short Palindromic Repeat ◽  
Dmd Gene

Duchenne muscular dystrophy (DMD) is a fatal X-linked recessive neuromuscular disorder most commonly caused by mutations disrupting the reading frame of the dystrophin (DMD) gene. DMD codes for dystrophin, which is critical for maintaining the integrity of muscle cell membranes. Without dystrophin, muscle cells receive heightened mechanical stress, becoming more susceptible to damage. An active body of research continues to explore therapeutic treatments for DMD as well as to further our understanding of the disease. These efforts rely on having reliable animal models that accurately recapitulate disease presentation in humans. While current animal models of DMD have served this purpose well to some extent, each has its own limitations. To help overcome this, clustered regularly interspaced short palindromic repeat (CRISPR)-based technology has been extremely useful in creating novel animal models for DMD. This review focuses on animal models developed for DMD that have been created using CRISPR, their advantages and disadvantages as well as their applications in the DMD field.

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