Michelle Eagle
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View article: Motor Function in Limb-Girdle Muscular Dystrophy R1/2A
Motor Function in Limb-Girdle Muscular Dystrophy R1/2A Open
In this largest reported cohort of individuals with LGMDR1/2A, NSAD, PUL, and 100MTT were suitable to quantify functional impact of the disease. International harmonization of outcome measures creates meaningful clinical data to inform cli…
View article: Modeling of Dysferlinopathy (LGMDR2) Progression
Modeling of Dysferlinopathy (LGMDR2) Progression Open
In conclusion, this study provides a better understanding of skeletal muscle fat replacement progression in the lower limb muscles of patients with LGMDR2, highlighting the influence of age at symptom onset, sex, and baseline motor functio…
View article: Functional abilities, respiratory and cardiac function in a large cohort of adults with Duchenne muscular dystrophy treated with glucocorticoids
Functional abilities, respiratory and cardiac function in a large cohort of adults with Duchenne muscular dystrophy treated with glucocorticoids Open
Background and purpose The transition to adult services, and subsequent glucocorticoid management, is critical in adults with Duchenne muscular dystrophy. This study aims (1) to describe treatment, functional abilities, respiratory and car…
View article: Validation of the North Star Assessment for Limb-Girdle Type Muscular Dystrophies
Validation of the North Star Assessment for Limb-Girdle Type Muscular Dystrophies Open
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 recess…
View article: Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy
Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy Open
ClinicalTrials.gov Identifier: NCT01603407.
View article: Repeated intravenous cardiosphere-derived cell therapy in late-stage Duchenne muscular dystrophy (HOPE-2): a multicentre, randomised, double-blind, placebo-controlled, phase 2 trial
Repeated intravenous cardiosphere-derived cell therapy in late-stage Duchenne muscular dystrophy (HOPE-2): a multicentre, randomised, double-blind, placebo-controlled, phase 2 trial Open
Capricor Therapeutics.
View article: Functional outcome measures in young, steroid-naïve boys with Duchenne muscular dystrophy
Functional outcome measures in young, steroid-naïve boys with Duchenne muscular dystrophy Open
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 boy…
View article: Consensus Guidelines for Improving Quality of Assessment and Training for Neuromuscular Diseases
Consensus Guidelines for Improving Quality of Assessment and Training for Neuromuscular Diseases Open
Critical components of successful evaluation of clinical outcome assessments (COAs) in multisite clinical trials and clinical practice are standardized training, administration, and documented reliability of scoring. Experiences of evaluat…
View article: Remote Delivery of Motor Function Assessment and Training for Clinical Trials in Neuromuscular Disease: A Response to the COVID-19 Global Pandemic
Remote Delivery of Motor Function Assessment and Training for Clinical Trials in Neuromuscular Disease: A Response to the COVID-19 Global Pandemic Open
Clinical outcome assessments of function or strength, assessed by physical therapists, are commonly used as primary endpoints in clinical trials, natural history studies and within clinics for individuals with neuromuscular disorders. Thes…
View article: Meta-analyses of deflazacort versus prednisone/prednisolone in patients with nonsense mutation Duchenne muscular dystrophy
Meta-analyses of deflazacort versus prednisone/prednisolone in patients with nonsense mutation Duchenne muscular dystrophy Open
Aim: Compare efficacies of deflazacort and prednisone/prednisolone in providing clinically meaningful delays in loss of physical milestones in patients with nonsense mutation Duchenne muscular dystrophy. Materials & methods: Placebo data f…
View article: A Randomized, Double-Blind, Placebo-Controlled, Global Phase 3 Study of Edasalonexent in Pediatric Patients with Duchenne Muscular Dystrophy: Results of the PolarisDMD Trial
A Randomized, Double-Blind, Placebo-Controlled, Global Phase 3 Study of Edasalonexent in Pediatric Patients with Duchenne Muscular Dystrophy: Results of the PolarisDMD Trial Open
Background: Edasalonexent (CAT-1004) is an orally-administered novel small molecule drug designed to inhibit NF-κB and potentially reduce inflammation and fibrosis to improve muscle function and thereby slow disease progression and muscle …
View article: Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale
Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale Open
Objective Dysferlinopathy is a muscular dystrophy with a highly variable clinical presentation and currently unpredictable progression. This variability and unpredictability presents difficulties for prognostication and clinical trial desi…
View article: Natural history of limb girdle muscular dystrophy R9 over 6 years: searching for trial endpoints
Natural history of limb girdle muscular dystrophy R9 over 6 years: searching for trial endpoints Open
Objective Limb girdle muscular dystrophy type R9 ( LGMD R9) is an autosomal recessive muscle disease for which there is currently no causative treatment. The development of putative therapies requires sensitive outcome measures for clinica…
View article: Assessment of disease progression in dysferlinopathy
Assessment of disease progression in dysferlinopathy Open
NCT01676077.
View article: Data from: Assessment of disease progression in dysferlinopathy – a one year cohort study
Data from: Assessment of disease progression in dysferlinopathy – a one year cohort study Open
Objective: To assess the ability of functional measures to detect disease progression in dysferlinopathy over 6 months and 1 year. Methods: 193 patients with dysferlinopathy were recruited to the Jain Foundation’s International Clinical Ou…
View article: The relationship between deficit in digit span and genotype in nonsense mutation Duchenne muscular dystrophy
The relationship between deficit in digit span and genotype in nonsense mutation Duchenne muscular dystrophy Open
NCT02090959.
View article: Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials
Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials Open
Background and objective Dysferlinopathies are a group of muscle disorders caused by mutations in the DYSF gene. Previous muscle imaging studies describe a selective pattern of muscle involvement in smaller patient cohorts, but a large ima…
View article: Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study
Teenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study Open
Dysferlinopathy, an autosomal recessive muscular dystrophy caused by DYSF mutations, demonstrates a variable phenotype and progression rate, with symptom onset ranging from first to eighth decade and some patients requiring wheelchairs for…
View article: A phase 3 randomized placebo-controlled trial of tadalafil for Duchenne muscular dystrophy
A phase 3 randomized placebo-controlled trial of tadalafil for Duchenne muscular dystrophy Open
This study provides Class I evidence that tadalafil does not slow ambulatory decline in 7- to 14-year-old boys with Duchenne muscular dystrophy.
View article: Aquatic therapy for children with Duchenne muscular dystrophy: a pilot feasibility randomised controlled trial and mixed-methods process evaluation
Aquatic therapy for children with Duchenne muscular dystrophy: a pilot feasibility randomised controlled trial and mixed-methods process evaluation Open
Background Duchenne muscular dystrophy (DMD) is a rare disease that causes the progressive loss of motor abilities such as walking. Standard treatment includes physiotherapy. No trial has evaluated whether or not adding aquatic therapy (AT…
View article: Mortality Cost of Duchenne Muscular Dystrophy
Mortality Cost of Duchenne Muscular Dystrophy Open
Background Despite advances in management and care, Duchenne muscular dystrophy (DMD) remains universally fatal. The objective of this study was to estimate the mortality cost of DMD. Methods We estimated the mean total national annual mor…
View article: Aquatic therapy for boys with Duchenne muscular dystrophy (DMD): an external pilot randomised controlled trial
Aquatic therapy for boys with Duchenne muscular dystrophy (DMD): an external pilot randomised controlled trial Open
ISRCTN41002956.
View article: Mortality Cost of Duchenne Muscular Dystrophy
Mortality Cost of Duchenne Muscular Dystrophy Open
BackgroundDespite advances in management and care, Duchenne muscular dystrophy (DMD) remains universally fatal. The objective of this study was to estimate the mortality cost of DMD.MethodsWe estimated the mean total national annual mortal…
View article: The Clinical Outcome Study for dysferlinopathy
The Clinical Outcome Study for dysferlinopathy Open
These findings highlight crucial issues to be addressed for both optimizing clinical care and planning therapeutic trials in dysferlinopathy. This ongoing longitudinal study will provide an opportunity to further understand patterns and va…
View article: A.06 Ataluren: an overview of clinical trial results in nonsense mutation Duchenne Muscular Dystrophy (nmDMD)
A.06 Ataluren: an overview of clinical trial results in nonsense mutation Duchenne Muscular Dystrophy (nmDMD) Open
Background : Ataluren is the first drug to treat the underlying cause of nmDMD. Methods: Phase 2 and 3 studies of ataluren in nmDMD were reviewed, with efficacy and safety/tolerability findings summarized. Results: Ataluren nmDMD trials in…
View article: Corrigendum to “Development and psychometric analysis of the Duchenne muscular dystrophy Functional Ability Self-Assessment Tool (DMDSAT)” [Neuromuscular Disorders 25 (2015) 937–944]
Corrigendum to “Development and psychometric analysis of the Duchenne muscular dystrophy Functional Ability Self-Assessment Tool (DMDSAT)” [Neuromuscular Disorders 25 (2015) 937–944] Open
The authors regret the Note included in the caption to Fig. 2 was incorrect in the above paper. The Note should read "Transfer/Ventilatory support items were scored 2 = Can do independently/Not ventilated; 1 = Can do with help/Ventilated a…