المؤلفون: Anna G. Mayhew, Leslie Nelson, Michela Guglieri, Tracey Willis

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: neuromuscular disorders (NMD), clinical trial, clinical outcome assessments, duchenne muscular dystrophy (DMD), spinal muscular atrophy (SMA), remote assessment, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.840074/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/248c0defe3fc427590a3c04694046ce1Test

المؤلفون: Anna G. Mayhew, Meredith K. James, Ursula Moore, Helen Sutherland, Marni Jacobs, Jia Feng, Linda Pax Lowes, Lindsay N. Alfano, Robert Muni Lofra, Laura E. Rufibach, Kristy Rose, Tina Duong, Luca Bello, Irene Pedrosa-Hernández, Scott Holsten, Chikako Sakamoto, Aurélie Canal, Nieves Sánchez-Aguilera Práxedes, Simone Thiele, Catherine Siener, Bruno Vandevelde, Brittney DeWolf, Elke Maron, Heather Gordish-Dressman, Heather Hilsden, Michela Guglieri, Jean-Yves Hogrel, Andrew M. Blamire, Pierre G. Carlier, Simone Spuler, John W. Day, Kristi J. Jones, Diana X. Bharucha-Goebel, Emmanuelle Salort-Campana, Alan Pestronk, Maggie C. Walter, Carmen Paradas, Tanya Stojkovic, Madoka Mori-Yoshimura, Elena Bravver, Jordi Díaz-Manera, Elena Pegoraro, Jerry R. Mendell, Volker Straub

المصدر: Frontiers in Neurology, Vol 13 (2022)

مصطلحات موضوعية: limb girdle muscular dystrophy, dysferlinopathy, PROMs, quality of life, clinical outcome assessments, Neurology. Diseases of the nervous system, RC346-429

الوصف: Dysferlinopathy is a muscular dystrophy with a highly variable functional disease progression in which the relationship of function to some patient reported outcome measures (PROMs) has not been previously reported. This analysis aims to identify the suitability of PROMs and their association with motor performance.Two-hundred and four patients with dysferlinopathy were identified in the Jain Foundation's Clinical Outcome Study in Dysferlinopathy from 14 sites in 8 countries. All patients completed the following PROMs: Individualized Neuromuscular Quality of Life Questionnaire (INQoL), International Physical Activity Questionnaire (IPAQ), and activity limitations for patients with upper and/or lower limb impairments (ACTIVLIMs). In addition, nonambulant patients completed the Egen Klassifikation Scale (EK). Assessments were conducted annually at baseline, years 1, 2, 3, and 4. Data were also collected on the North Star Assessment for Limb Girdle Type Muscular Dystrophies (NSAD) and Performance of Upper Limb (PUL) at these time points from year 2. Data were analyzed using descriptive statistics and Rasch analysis was conducted on ACTIVLIM, EK, INQoL. For associations, graphs (NSAD with ACTIVLIM, IPAQ and INQoL and EK with PUL) were generated from generalized estimating equations (GEE). The ACTIVLIM appeared robust psychometrically and was strongly associated with the NSAD total score (Pseudo R2 0.68). The INQoL performed less well and was poorly associated with the NSAD total score (Pseudo R2 0.18). EK scores were strongly associated with PUL (Pseudo R2 0.69). IPAQ was poorly associated with NSAD scores (Pseudo R2 0.09). This study showed that several of the chosen PROMs demonstrated change over time and a good association with functional outcomes. An alternative quality of life measure and method of collecting data on physical activity may need to be selected for assessing dysferlinopathy.

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2022.828525/fullTest; https://doaj.org/toc/1664-2295Test

الوصول الحر: https://doaj.org/article/0470816544d14c339d5608df7267ca17Test

المؤلفون: Francesco Muntoni, Michela Guglieri, Jean K. Mah, Kathryn R. Wagner, John F. Brandsema, Russell J. Butterfield, Craig M. McDonald, Anna G. Mayhew, Jeffrey P. Palmer, Shannon Marraffino, Lawrence Charnas, Eugenio Mercuri

المصدر: PLoS ONE, Vol 17, Iss 8 (2022)

مصطلحات موضوعية: Medicine, Science

الوصف: Introduction The North Star Ambulatory Assessment (NSAA) tool is a key instrument for measuring clinical outcomes in patients with Duchenne muscular dystrophy (DMD). To gain a better understanding of the longitudinal utility of the NSAA, we evaluated NSAA data from a phase II trial of 120 patients with DMD treated with domagrozumab or placebo. Methods The NSAA exploratory analyses included assessment of individual skills gained/lost, total skills gained/lost, cumulative loss of function, and the impact of transient loss of function due to a temporary disability on NSAA total score (temporary zero score). Results There was no significant difference in the total number of NSAA skills gained (mean 1.41 and 1.04, respectively; p = 0.3314) or lost (3.90 vs. 5.0; p = 0.0998) between domagrozumab- vs. placebo-treated patients at week 49. However, domagrozumab-treated patients were less likely to lose the ability to perform a NSAA item (hazard ratio 0.80, 95% confidence interval [CI]: 0.65–0.98, p = 0.029) over 48-weeks vs. placebo-treated patients. When temporary zero scores were changed to “not obtainable” (8 values from 7 patients), domagrozumab-treated patients scored higher on the NSAA total score versus placebo-treated patients (difference at week 49: 2.0, 95% CI: 0.1–3.9, p = 0.0359). Conclusions These exploratory analyses reveal additional approaches to interpreting the NSAA data beyond just change in NSAA total score. These observations also highlight the importance of reporting items as “not obtainable” for a patient with a temporary/transient physical disability that impacts their ability to perform the NSAA test. ClinicalTrials.gov identifier NCT02310763.

وصف الملف: electronic resource

العلاقة: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9397979/?tool=EBITest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/fde97ba947ad4ba8aef682b8dd0767d2Test

المؤلفون: Natalie F, Reash, Meredith K, James, Lindsay N, Alfano, Anna G, Mayhew, Marni, Jacobs, Megan A, Iammarino, Scott, Holsten, Chikako, Sakamoto, Takayuki, Tateishi, Hiroyuki, Yajima, Tina, Duong, Brittney, de Wolf, Richard, Gee, Diana X, Bharucha-Goebel, Elena, Bravver, Madoka, Mori-Yoshimura, Kate, Bushby, Laura E, Rufibach, Volker, Straub, Linda P, Lowes

المصدر: Muscle & Nerve. 66:159-166

مصطلحات موضوعية: Cellular and Molecular Neuroscience, Muscular Dystrophies, Limb-Girdle, Physiology, Physiology (medical), Humans, Reproducibility of Results, Muscle Strength, Muscle Strength Dynamometer, Neurology (clinical)

الوصف: Dysferlinopathy demonstrates heterogeneity in muscle weakness between patients, which can progress at different rates over time. Changing muscle strength due to disease progression or from an investigational product is associated with changing functional ability. The purpose of this study was to compare three methods of strength testing used in the Clinical Outcome Study (COS) for dysferlinopathy to understand which method and which muscle groups were most sensitive to change over time.Patients were evaluated at each study visit using functional scales, manual muscle testing, and handheld dynamometry (HHD) at all 15 sites. A fixed-frame system (Fixed) was used at a subset of seven sites. Screening and baseline visits were evaluated for reliability. Data over a 1-year period were analyzed to determine sensitivity to change among strength modalities and individual muscle groups.HHD and Fixed captured significant change across 1 year in summed muscle strength score of four muscle groups (P .01). Strength summed scores were significantly correlated with functional scales (rho = 0.68-0.92, P .001). Individual muscle groups, however, showed high levels of variability between visits.Although both HHD and Fixed demonstrate change over 12 months, HHD is a less expensive option that provides data on a continuous scale and may be easier to implement. Due to variability in strength measures, researchers should carefully consider use of strength testing as an outcome and may wish to select functional measures with less variability as clinical trial endpoints.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8bce32faed7890afe0a747f6670d31dTest
https://doi.org/10.1002/mus.27570Test

المؤلفون: Anna G Mayhew, Dionne Moat, Michael P. McDermott, Michelle Eagle, Robert C. Griggs, Wendy M. King, Meredith K. James, Robert Muni-Lofra, Alison Shillington, Sarah Gregson, Lindsey Pallant, Christy Skura, Loretta A. Staudt, Katy Eichinger, Heather McMurchie, Rosanna Rabb, Marina Di Marco, Sarah Brown, Riccardo Zanin, Maria Teresa Arnoldi, Melissa McIntyre, Amelia Wilson, Lindsay N. Alfano, Linda P. Lowes, Colleen Blomgren, Evelin Milev, Mario Iodice, Amy Pasternak, Angela Chiu, Ilka Lehnert, Nicole Claus, Kathy A. Dieruf, Enrica Rolle, Alina Nicorici, Barbara Andres, Elke Hobbiebrunken, Gerda Roetmann, Victoria Kern, Matthew Civitello, Sibylle Vogt, Melissa J. Hayes, Cheryl Scholtes, Catherine Lacroix, Tara Gunn, Sinead Warner, Jennifer Newman, Andrea Barp, Katherine Kundrat, Staci Kovelman, Penny J. Powers, Michela Guglieri

مصطلحات موضوعية: Male, Medizin, Reproducibility of Results, Walking, Muscular Dystrophy, Duchenne, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, Outcome Assessment, Health Care, Humans, Steroids, Neurology (clinical), Child, Genetics (clinical)

الوصف: The purpose of this study was to quantitate motor performance in 196 genetically confirmed steroid-naïve boys with Duchenne muscular dystrophy (DMD), to evaluate the test-retest reliability of measures of motor performance in young DMD boys, and to assess correlations among the different functional outcomes including timed tests. Boys aged 4-7 years were recruited in the FOR-DMD study, a comparative effectiveness study of different steroid regimens in DMD. Eligible boys had to be able to rise from the floor independently and to perform pulmonary function testing consistently. The boys were evaluated with standardized assessments at the screening and baseline visits at 32 sites in 5 countries (US, UK, Canada, Italy, Germany). Assessments included timed rise from floor, timed 10 m walk/run, six-minute walk distance, North Star Ambulatory Assessment (NSAA) and forced vital capacity (FVC). Mean age at baseline was 5.9 years (range 4.1-8.1 years). Test-retest reliability was high for functional assessments, regardless of time lag between assessments (up to 90 days) and for the majority of age groups. Correlations were strong among the functional measures and timed tests, less so with FVC. Physiotherapy measures are reliable in a young, steroid-naïve population and rise from floor velocity appears to be a sensitive measure of strength in this population.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5e14527315758d1386a2c3218e74632Test
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85131130448Test

المؤلفون: Anna G. Mayhew, Leslie Nelson, Michela Guglieri, Tracey Willis

المصدر: Frontiers in genetics. 13

مصطلحات موضوعية: Genetics, Molecular Medicine, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c17337bc7cfe283ec69012123ebd56dTest
https://pubmed.ncbi.nlm.nih.gov/35860463Test

المؤلفون: Meredith K James, Lindsay N Alfano, Robert Muni-Lofra, Natalie F Reash, Jassi Sodhi, Megan A Iammarino, Dionne Moat, Kianna Shannon, Michelle McCallum, Mark Richardson, Michelle Eagle, Volker Straub, Chiara Marini-Bettolo, Linda P Lowes, Anna G Mayhew

المصدر: Physical therapy. 102(10)

مصطلحات موضوعية: Muscle Weakness, Phenotype, Muscular Dystrophies, Limb-Girdle, Humans, Reproducibility of Results, Physical Therapy, Sports Therapy and Rehabilitation, Muscular Dystrophies

الوصف: Objective The North Star Assessment for limb-girdle type muscular dystrophies (NSAD), a clinician-reported outcome measure (ClinRO) of motor performance, was initially developed and validated for use in dysferlinopathy, an autosomal recessive form of limb-girdle muscular dystrophy (LGMD R2/2B). Recent developments in treatments for limb-girdle muscular dystrophies (LGMD) have highlighted the urgent need for disease-specific ClinROs. The purpose of this study was to understand the ability of the NSAD to quantify motor function across the broad spectrum of LGMD phenotypes. Methods Assessments of 130 individuals with LGMD evaluated by the physical therapy teams at Nationwide Children’s Hospital and the John Walton Muscular Dystrophy Research Centre were included in the analysis. NSAD, 100-m timed test (100MTT), and Performance of Upper Limb 2.0 assessment data were collected. Psychometric analysis with Rasch measurement methods was used to examine the NSAD for suitability and robustness by determining the extent to which the observed data “fit” with predictions of those ratings from the Rasch model. The NSAD score was correlated with the 100MTT and Performance of Upper Limb 2.0 assessment scores for external construct validity. Results The NSAD demonstrated a good spread of items covering a continuum of abilities across both individuals who had LGMD and were ambulatory and individuals who had LGMD and were weaker and nonambulatory. Items fit well with the construct measured, validating a summed total score. The NSAD had excellent interrater reliability [intraclass correlation coefficient (ICC) = 0.986, 95% CI = 0.981–0.991] and was highly correlated with the 100MTT walk/run velocity (Spearman rho correlation coefficient of rs(134) = .92). Conclusion Although LGMD subtypes may differ in age of onset, rate of progression, and patterns of muscle weakness, the overall impact of progressive muscle weakness on motor function is similar. The NSAD is a reliable and valid ClinRO of motor performance for individuals with LGMD and is suitable for use in clinical practice and research settings. Impact Recent developments in potential pharmacological treatments for LGMD have highlighted the urgent need for disease-specific outcome measures. Validated and meaningful outcome measures are necessary to capture disease presentation, to inform expected rates of progression, and as endpoints for measuring the response to interventions in clinical trials. The NSAD, a scale of motor performance for both individuals who have LGMD and are ambulatory and those who are nonambulatory, is suitable for use in clinical and research settings.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3133f87b31121a914ba1d38f5062f155Test
https://pubmed.ncbi.nlm.nih.gov/35932452Test

المؤلفون: Anna G. Mayhew, Meredith K. James, Ursula Moore, Helen Sutherland, Marni Jacobs, Jia Feng, Linda Pax Lowes, Lindsay N. Alfano, Robert Muni Lofra, Laura E. Rufibach, Kristy Rose, Tina Duong, Luca Bello, Irene Pedrosa-Hernández, Scott Holsten, Chikako Sakamoto, Aurélie Canal, Nieves Sánchez-Aguilera Práxedes, Simone Thiele, Catherine Siener, Bruno Vandevelde, Brittney DeWolf, Elke Maron, Heather Gordish-Dressman, Heather Hilsden, Michela Guglieri, Jean-Yves Hogrel, Andrew M. Blamire, Pierre G. Carlier, Simone Spuler, John W. Day, Kristi J. Jones, Diana X. Bharucha-Goebel, Emmanuelle Salort-Campana, Alan Pestronk, Maggie C. Walter, Carmen Paradas, Tanya Stojkovic, Madoka Mori-Yoshimura, Elena Bravver, Jordi Díaz-Manera, Elena Pegoraro, Jerry R. Mendell, Volker Straub

مصطلحات موضوعية: Neurology and Neuromuscular Diseases, Neurogenetics, limb girdle muscular dystrophy, dysferlinopathy, PROMs, quality of life, clinical outcome assessments

الوصف: Dysferlinopathy is a muscular dystrophy with a highly variable functional disease progression in which the relationship of function to some patient reported outcome measures (PROMs) has not been previously reported. This analysis aims to identify the suitability of PROMs and their association with motor performance.Two-hundred and four patients with dysferlinopathy were identified in the Jain Foundation's Clinical Outcome Study in Dysferlinopathy from 14 sites in 8 countries. All patients completed the following PROMs: Individualized Neuromuscular Quality of Life Questionnaire (INQoL), International Physical Activity Questionnaire (IPAQ), and activity limitations for patients with upper and/or lower limb impairments (ACTIVLIMs). In addition, nonambulant patients completed the Egen Klassifikation Scale (EK). Assessments were conducted annually at baseline, years 1, 2, 3, and 4. Data were also collected on the North Star Assessment for Limb Girdle Type Muscular Dystrophies (NSAD) and Performance of Upper Limb (PUL) at these time points from year 2. Data were analyzed using descriptive statistics and Rasch analysis was conducted on ACTIVLIM, EK, INQoL. For associations, graphs (NSAD with ACTIVLIM, IPAQ and INQoL and EK with PUL) were generated from generalized estimating equations (GEE). The ACTIVLIM appeared robust psychometrically and was strongly associated with the NSAD total score (Pseudo R 2 0.68). The INQoL performed less well and was poorly associated with the NSAD total score (Pseudo R 2 0.18). EK scores were strongly associated with PUL (Pseudo R 2 0.69). IPAQ was poorly associated with NSAD scores (Pseudo R 2 0.09). This study showed that several of the chosen PROMs demonstrated change over time and a good association with functional outcomes. An alternative quality of life measure and method of collecting data on physical activity may need to be selected for assessing dysferlinopathy.

العلاقة: https://figshare.com/articles/dataset/Table_1_Assessing_the_Relationship_of_Patient_Reported_Outcome_Measures_With_Functional_Status_in_Dysferlinopathy_A_Rasch_Analysis_Approach_docx/19335725Test

الإتاحة: https://doi.org/10.3389/fneur.2022.828525.s001Test
https://figshare.com/articles/dataset/Table_1_Assessing_the_Relationship_of_Patient_Reported_Outcome_Measures_With_Functional_Status_in_Dysferlinopathy_A_Rasch_Analysis_Approach_docx/19335725Test