A5082416747- Muscle Physiology and Disorders
- Clinical practice guidelines implementation
- Prosthetics and Rehabilitation Robotics
- Delphi Technique in Research
- Cardiomyopathy and Myosin Studies
- Neurogenetic and Muscular Disorders Research
- Health Systems, Economic Evaluations, Quality of Life
- Patient-Provider Communication in Healthcare
- Muscle activation and electromyography studies
- Genetic Neurodegenerative Diseases
- Mental Health and Patient Involvement
- Anxiety, Depression, Psychometrics, Treatment, Cognitive Processes
- Medical Imaging Techniques and Applications
- Cardiovascular Effects of Exercise
- Children's Physical and Motor Development
- Radiomics and Machine Learning in Medical Imaging
- Exercise and Physiological Responses
- Vitamin D Research Studies
- Mindfulness and Compassion Interventions
- Tissue Engineering and Regenerative Medicine
- Molecular Biology Techniques and Applications
- Pain Management and Treatment
- Cardiac and Coronary Surgery Techniques
- Congenital heart defects research
- Perfectionism, Procrastination, Anxiety Studies
Parent Project Muscular Dystrophy
2014-2025
Carolinas Medical Center
2011
University of British Columbia
1999
Hunter Holmes McGuire VA Medical Center
1986
Virginia Commonwealth University
1986
Virginia Commonwealth University Medical Center
1986
University of Kentucky
1985
Dayton Clinical Oncology Program
1981
Kettering Medical Center
1981
Analyzing the type and frequency of patient-specific mutations that give rise to Duchenne muscular dystrophy (DMD) is an invaluable tool for diagnostics, basic scientific research, trial planning, improved clinical care. Locus-specific databases allow collection, organization, storage, analysis genetic variants disease. Here, we describe development TREAT-NMD DMD Global database (http://umd.be/TREAT_DMD/). We analyzed data 7,149 held within database. A total 5,682 large were observed (80%...
Background: Recent short-term clinical trials in patients with Duchenne Muscular Dystrophy (DMD) have indicated greater disease variability terms of progression than expected. In addition, as average life-expectancy increases, reliable data is req
Patients and caregivers are increasingly recognized as key stakeholders in developing clinical practice guidelines (CPGs). Online engagement approaches offer the promise of a rigorous, scalable, convenient method. This paper illustrates how an online modified-Delphi approach could be used to engage patients, caregivers, other stakeholder CPG development. It provides practical guidance for conducting panels that covers (1) joint development with relevant stakeholders, (2) adaptation methods...
Duchenne muscular dystrophy (DMD) is an X-linked genetic disease, caused by the absence of dystrophin protein. Although many novel therapies are under development for DMD, there currently no cure and affected individuals often confined to a wheelchair their teens die in twenties/thirties. DMD rare disease (prevalence <5/10,000). Even largest countries do not have enough patients rigorously assess therapies, unravel complexities, determine patient outcomes. TREAT-NMD worldwide network...
Antisense oligonucleotide (AON)-mediated exon skipping is an emerging therapeutic for individuals with Duchenne muscular dystrophy (DMD). Skipping of exons adjacent to common deletions in DMD using AONs can produce in-frame transcripts and functional protein. Targeted 8, 44, 45, 50, 51, 52, 53, 55 predicted benefit 47% affected individuals. We observed a correlation between mutation subgroups age at loss ambulation the Registry, large database phenotypic genetic data (N = 765). Males...
We report 24 unrelated individuals with deletions and 17 additional cases duplications at 10q11.21q21.1 identified by chromosomal microarray analysis. The rearrangements range in size from 0.3 to 12 Mb. Nineteen of the eight are flanked large, directly oriented segmental >98% sequence identity, suggesting that nonallelic homologous recombination (NAHR) caused these genomic rearrangements. Nine five have copy number changes. Detailed clinical evaluation 20 patients revealed variable features,...
Treatment options for Duchenne muscular dystrophy remain limited, although consensus treatment guidelines recommend corticosteroid use.This retrospective analysis assessed use in ambulatory and nonambulatory US males with Duchenne, age 35 under, or Becker dystrophy, who enrolled The Registry from 2007 to 2016 (formerly DuchenneConnect).The mean (SD) of initiation was 5.9 (2.5) years, deflazacort (54%) slightly more common than prednisone/prednisolone (46%). Among all responses those 63% were...
Purpose. To determine the patient-centeredness of endocrine and bone health Duchenne muscular dystrophy (DMD) care considerations using RAND/PPMD Patient-Centeredness Method (RPM), which is a novel, online, modified-Delphi approach to engaging patients caregivers in clinical guideline development. Methods. We solicited input on from 28 individuals with DMD 94 caregivers, randomly assigned 1 2 mixed panels. During 3-round online process, participants rated importance acceptability 19 (round...
Research activity in Duchenne/Becker muscular dystrophy has surged recent years, requiring robust information networks to support ongoing development. Established by Parent Project Muscular Dystrophy late 2007, DuchenneConnect was created bridge the gap between care providers, researchers and patient community, thereby addressing medical needs accelerating pace of therapeutic advancements. This report represents first a new series that will be regularly shared PPMD. Data this collected...
Background: Duchenne muscular dystrophy (DMD) and related dystrophinopathies are neuromuscular conditions with great unmet medical needs that require the development of effective treatments. Objective: To aid sponsors in clinical drugs therapeutic biological products for treating DMD across disease spectrum by integrating advancements, patient registries, natural history studies, more into a comprehensive guidance. Methods: This guidance emerged from collaboration between FDA, community,...
In this study we investigate associations between genotypic and sociodemographic factors the age of diagnosis Duchenne muscular dystrophy (DMD).Data were collected from Registry 2007 to 2019, then used assess impact genotype, race/ethnicity, neighborhood poverty levels, other sociodemographics have on DMD patients without a known family history, using univariate multivariable linear regression.The mean was 4.43 years. Non-Caucasian high-poverty neighborhoods older at (P < .01). Increased...
Clinical care guidelines are typically developed by clinicians and researchers. Including patient caregiver voices in guideline development may help create that more useful for patients consequently improve their adherence. Although there is substantial research on the factors affect providers' adherence to guidelines, less patients' compliance with recommendations, especially among those rare disorders. The purpose of this study explore likely patient/caregiver endocrine bone health...
Background: Clinical guidelines provide systematically developed recommendations for deciding on appropriate health care options specific conditions and clinical circumstances. Up until recently, patients caregivers have rarely been included in the process of developing guidelines. Objective: This project will develop test a new online method including their this using Duchenne muscular dystrophy (DMD) as an example. The mirror complement RAND/UCLA Appropriateness Method (RAM)—the gold...
Background Mindfulness can improve overall well-being by training individuals to focus on the present moment without judging their thoughts. However, it is unknown how much mindfulness practice and are necessary well-being. Objective The primary aim of this study was determine whether a standard 8-session web-based mindfulness-based cognitive therapy (MBCT) program, compared with brief 3-session intervention, improved participant In addition, we sought explore treatment effects differed...
ABSTRACT To assess the utility of online patient self-report outcomes in a rare disease, we attempted to observe effects corticosteroids delaying age at fulltime wheelchair use Duchenne muscular dystrophy (DMD) using data from 1,057 males DuchenneConnect, an registry. Data collected were compared prior natural history regard diagnosis, mutation spectrum, and loss ambulation. Because registrants reported differences steroid other medication usage, as well ambulation status, could explore...