View clinical trials related to Muscular Dystrophies.
Filter by:The aim of this study, determining the factors affecting the hand functions of children with Duchenne Muscular Dystrophy who have lost their independent ambulatory ability and determining the effects on the overall upper extremity performance and quality of life of the determined factors.
There isn't specific Health related quality of life measure for children with DMD in French. The aim of this study is to validate the French version of the Pediatric Quality of Life Inventory 3.0 Duchenne Muscular Dystrophy module with a multicentric study. The investigators will evaluate the following psychometric properties : convergent validity, internal validity, inter-rater reliability. The investigators would like to be able to use this scientific tool in future clinical trials.
This is a Phase 1, double-blind, placebo-controlled, single ascending dose cohort study to evaluate the safety, tolerability, and plasma concentrations of WVE-210201 in ambulatory and non-ambulatory male pediatric patients with DMD amenable to exon 51 skipping intervention.
Family-centred care (FCS) is considered the best practice in providing rehabilitation to children with disabilities and special needs. Family-centred care has been described as a partnership approach to healthcare decision making. As a philosophy of healthcare, today many multidisciplinary healthcare facilities have organized their services according to a family-centred approach. TheMeasure of Processes of Care (MPOC) is the most widely used instrument to assess parents' self-reported experiences of family-centred behaviours of rehabilitation services providers. The aim of this study is to translate the scale to Turkish and to determine validity and reliability of The Measure of Processes of Care (MPOC 56- 20- SP)
For ambulatory children with DMD, physiotherapy is aimed at protecting ambulation, improving motor performance to the best level and increasing quality of life. The investigators think that the treatment of children with Duchenne Muscular Dystrophy may become more effective with physiotherapy programs based on the comprehensive physiotherapy evaluation results, including the evaluation of fear of falling. This study investigates the fear of falling in children with Duchenne Muscular Dystrophy and questioning whether their fear of falling affects their quality of life and their physical performance.
This study is to recruit and establish baseline measurements for potential subjects that may be eligible for a gene therapy trial. Specifically, this trial is recruiting individuals who are suspected or have been confirmed to have Limb Girdle Muscular Dystrophy type 2E (LGMD2E).
This pilot study aims to assess subcellular muscle structure in patients with Duchenne X-linked progressive Duchenne muscular dystrophy (DMD) in comparison to healthy volunteers using multispectral optoacoustic tomography (MSOT). During MSOT, a transducer is placed on the skin similar to a conventional sonography and instead of sound, energy is supplied to the tissue by means of light flashes. This leads to a constant change of minimal expansions and contractions (thermoelastic expansion) of individual tissue constituents or molecules. The resulting sound waves can then be detected by the same examination unit.
This is an observational study, no drug (marketed or investigational) will be provided as part of the study, and the study procedures will have no impact on the medical care delivered to patients participating in this study. The overall study data collection period is planned to last up to 5 years with assessments occurring at baseline, and every 6 months thereafter for a total period of 3 years. Medical records for enrolled patients will be abstracted at baseline and annually to obtain clinical information, and data will be recorded for the study. Eligible patients will be asked to provide informed consent and to complete semi-annual patient surveys and functional assessments. The patient surveys will include selected PRO instrument(s) along with additional questions to characterize the patient's perception of disease.
The primary cause of facioscapulohumeral muscular dystrophy (FSHD), a common adult-onset dystrophy, was recently discovered identifying targets for therapy. As multiple drug companies pursue treatments for FSHD, there is an urgent need to define the clinical trial strategies which will hasten drug development, including creating disease-relevant outcome measures and optimizing inclusion criteria. This proposal will develop two new outcome measures and optimize eligibility criteria by testing 160 patients in 7 sites over a period of 24 months.
Retrospective cohort study including patients with genetically proven Duchenne muscular dystrophy, diagnosed from January 1993 to March 2020. Inclusion of the data relative to genetic diagnosis, clinical characteristics at baseline, cardiac and respiratory workup, medical treatments (ACE inhibitors, steroids), surgical procedures, and occurrence during follow-up of cardiac, respiratory and fatal events. Objectives are to describe long-term natural history of the disease, vital prognosis, genotype-phenotype correlations, effect of treatments.