A5003119826- Muscle Physiology and Disorders
- Cardiomyopathy and Myosin Studies
- Neurogenetic and Muscular Disorders Research
- Cardiovascular Effects of Exercise
- Children's Physical and Motor Development
- Hereditary Neurological Disorders
- Muscle activation and electromyography studies
- Transcranial Magnetic Stimulation Studies
- Genetic Neurodegenerative Diseases
- Neurological diseases and metabolism
- Prosthetics and Rehabilitation Robotics
- Nutrition and Health in Aging
- Congenital Diaphragmatic Hernia Studies
- Advanced MRI Techniques and Applications
- Genomics and Rare Diseases
- Cardiovascular Disease and Adiposity
- Myasthenia Gravis and Thymoma
- Cerebrovascular and genetic disorders
- Congenital Anomalies and Fetal Surgery
- Cancer Treatment and Pharmacology
- Bone and Dental Protein Studies
- Adrenal Hormones and Disorders
- Infrared Thermography in Medicine
- BRCA gene mutations in cancer
- Neuroblastoma Research and Treatments
Vanderbilt University Medical Center
2014-2025
Indiana University
2024
National Institutes of Health
2024
The Ohio State University Wexner Medical Center
2024
Monroe Carell Jr. Children's Hospital
2012-2021
Newcastle University
2021
Robert Jones and Agnes Hunt Orthopaedic Hospital
2017-2021
Great North Children's Hospital
2021
University of Rochester
2021
Vanderbilt University
2014-2018
Objective Infantile‐onset spinal muscular atrophy (SMA) is the most common genetic cause of infant mortality, typically resulting in death preceding age 2. Clinical trials this population require an understanding disease progression and identification meaningful biomarkers to hasten therapeutic development predict outcomes. Methods A longitudinal, multicenter, prospective natural history study enrolled 26 SMA infants 27 control aged <6 months. Recruitment occurred at 14 centers over 21...
Corticosteroids improve strength and function in boys with Duchenne muscular dystrophy. However, there is uncertainty regarding the optimum regimen dosage.To compare efficacy adverse effects of 3 most frequently prescribed corticosteroid regimens dystrophy.Double-blind, parallel-group randomized clinical trial including 196 aged 4 to 7 years dystrophy who had not previously been treated corticosteroids; enrollment occurred between January 30, 2013, September 17, 2016, at 32 clinic sites 5...
This study prospectively assessed putative promising biomarkers for use in assessing infants with spinal muscular atrophy (SMA).This prospective, multi-center natural history targeted the enrollment of SMA and healthy control less than 6 months age. Recruitment occurred at 14 centers within NINDS National Network Excellence Neuroscience Clinical Trials (NeuroNEXT) Network. Infant motor function scales electrophysiological, protein molecular were baseline subsequent visits.Enrollment began...
Background: Vincristine-induced peripheral neuropathy (VIPN) is difficult to quantify in children. Objective: The study objective was examine the reliability, validity, and clinical feasibility of several VIPN measures for use children with acute lymphoblastic leukemia. Interventions/Methods: Children (n = 65) aged 1 18 years receiving vincristine at 4 academic centers participated study. Baseline pre–vincristine administration assessments were obtained using Total Neuropathy Score–Pediatric...
To conduct a randomized trial to test the primary hypothesis that once-daily tadalafil, administered orally for 48 weeks, lessens decline in ambulatory ability boys with Duchenne muscular dystrophy (DMD).Three hundred thirty-one participants DMD 7 14 years of age taking glucocorticoids were tadalafil 0.3 mg·kg-1·d-1, 0.6 or placebo. The efficacy measure was 6-minute walk distance (6MWD) after weeks. Secondary measures included North Star Ambulatory Assessment and timed function tests....
Abstract Background: Cardiomyopathy is the leading cause of death in patients with Duchenne muscular dystrophy. The relationship between cardiac and skeletal muscle progression unclear. objective this study was to evaluate correlation activity cardiomyopathy. We hypothesised that cardiomyopathy are directly related. Methods: Physical assessed accelerometers worn for 7 days. Average (vector magnitude/min) percentage time different activities were reported. Cardiac MRI used assess left...
Background: Edasalonexent (CAT-1004) is an orally-administered novel small molecule drug designed to inhibit NF-κB and potentially reduce inflammation fibrosis improve muscle function thereby slow disease progression decline in Duchenne muscular dystrophy (DMD). Objective: This international, randomized 2 : 1, placebo-controlled, phase 3 study patients ≥4 – < 8 years old with DMD due any dystrophin mutation examined the effect of edasalonexent (100 mg/kg/day) compared placebo over 52...
Background: Duchenne muscular dystrophy (DMD) is characterized by progressive skeletal muscle and cardiac dysfunction. While dysfunction precedes cardiomyopathy, the relationship between decline in function unclear. This especially important given that myocardial effects of many developing DMD therapies are largely unknown. Objective: Our objective was to assess progression weakness onset DMD. Methods: A total 77 subjects treated at a single referral center were included. Demographic...
Background: Physical activity, assessed by accelerometers, has been proposed as a quantitative outcome measure for patients with DMD, but research is limited Objective: To assess the total amount and patterns of physical activity in DMD using accelerometers.Methods: was (n = 49, 13.6 ± 4.0-year-old) age-and sex-matched healthy controls 15, 14.0 2.3-year-old) wrist-and ankle-worn accelerometers.To accelerometer recordings were converted into acceleration estimates (counts/min).Patterns time...
Duchenne muscular dystrophy (DMD) is a rare, X-linked, progressive, degenerative muscle disease due to pathogenic variants in the DMD gene resulting absence of functional dystrophin protein.1 Patients with have irreversible damage that begins at birth, and there histologic evidence progression progressive inflammation fibrosis within first years life.2 Proactive interdisciplinary care, corticosteroids, advances disease-modifying treatments changed trajectory disease, leading slower improving...
Spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by biallelic variants of the
Recruitment and retention of research participants are challenging critical components successful clinical trials natural history studies. Infants with spinal muscular atrophy (SMA) have been a particularly population to study due their fragile complex medical issues, poor prognosis and, until 2016, lack effective therapies. healthy infants into studies is also sometimes assumed not be feasible.In 2011, our group initiated two-year, longitudinal SMA infant controls provide data assist in the...
Duchenne muscular dystrophy leads to cardiomyopathy. The objective of this study was estimate the association body mass index with cardiomyopathy onset. Cardiomyopathy defined as left ventricular ejection fraction <55% or fractional shortening <28%. Overall, 48% met criteria for We were unable demonstrate an between Z score and age onset (hazard ratio 0.79, 95% confidence interval 0.57-1.11, P = .17) after adjusting covariates. Duration corticosteroid use ( .01), but not loss ambulatory...
Duchenne muscular dystrophy (DMD) is an X-linked disorder that leads to cardiac and skeletal myopathy. The complex immune activation in boys with DMD incompletely understood. To better understand the contribution of system into progression DMD, we performed a systematic characterization cell subpopulations obtained from peripheral blood subjects control donors. We found number CD8 cells expressing CD26 (also known as adenosine deaminase complexing protein 2) was increased compared control....