View clinical trials related to Muscular Dystrophies.
Filter by:Cell-free fetal DNA (cffDNA) is present in the maternal blood from the early first trimester of gestation and makes up 5%-20% of the total circulating cell-free DNA (cfDNA) in maternal plasma. Its presence in maternal plasma has allowed development of noninvasive prenatal diagnosis for single-gene disorders (SGD-NIPD). This can be performed from 9 weeks of amenorrhea and offers an early, safe and accurate definitive diagnosis without the miscarriage risk associated with invasive procedures. One of the major difficulties is distinguishing fetal genotype in the high background of maternal cfDNA, which leads to several technical and analytical challenges. Besides, unlike noninvasive prenatal testing for aneuploidy, NIPD for monogenic diseases represent a smaller market opportunity, and many cases must be provided on a bespoke, patient- or disease-specific basis. As a result, implementation of SGD-NIPD remained sparse, with most testing being delivered in a research setting. The present project aims to take advantage of the unique French collaborative network to make SGD-NIPD possible for theoretically any monogenic disorder and any family.
When the field of neurorehabilitation is examined, most of the current physiotherapy and rehabilitation approaches are based on real movements to stimulate damaged motor neural connections through neuroplasticity. However, since studies have shown that similar brain regions are activated during real movement with motor imagery, which is defined as imagining movement without actually revealing the movement, the findings of these studies suggest that motor functions can be improved through neuroplasticity, just like real movement. When the literature especially in the pediatric population is examined; The effectiveness of motor imagery training with children with cerebral palsy was examined and positive results were found. However, there are no such studies on children with DMD. In addition, telerehabilitation-based motor imagery training is a very rare treatment modality that requires further research. Therefore, the aim of the study is to investigate the effect of telerehabilitation-based motor imagery training on motor imagery ability, motor function and physical performance in children with DMD. The secondary aim of the study is to investigate the effects of telerehabilitation-based motor imagery training on psychosocial factors including fatigue and quality of life in children with DMD.
The pathogenesis of facioscapulohumeral dystrophy (FSHD), one of the most prevalent types of inherited muscle disease, is unknown. The reasons underlying its significant clinical heterogeneity, incomplete penetrance, and sex specific differences in the age of onset, are not currently understood. While metabolic changes associated with this disease have so far deserved little attention, recent studies have pinpointed significant metabolic dysregulation as an emerging driving mechanism in the pathophysiology of this untreatable disease. To test this hypothesis, we will perform a deep metabolic phenotyping in a large cohort of highly clinically characterized FSHD patients at different stage of disease and age/sex-matched controls by state-of-art plasma metabolomic and mitochondrial biomarker profiling. These data will allow attributing specific metabolomic signatures to different stages of the disease in each sex. Metabolic pathway analysis will allow gaining insights into the type of metabolic dysregulation associated with the disease pathogenesis, leading to the identification of targeted metabolic/nutritional interventions and biomarker discovery.
This is a Phase 1/2 study of Multiple-Ascending Dose (MAD) levels for 12 weeks of treatment followed by 24 weeks of open-label treatment with a selected dose of NS-050/NCNP-03 administered once weekly to ambulant boys with DMD, who have a DMD mutation amenable to exon 50 skipping.
The purpose of the study is to investigate the effect of bicycle ergometry training on ventilatory functions in boys with Duchenne muscular dystrophy.
Background Duchenne and Becker muscular dystrophies are X-linked recessive allelic disorders caused by mutations of the dystrophin gene on chromosome Xp21. Female carriers may pass on the pathogenic variant to their daughters, resulting in a significant number of female carriers of pathogenic DMD variants. There was a large variability in the severity of symptoms with some being asymptomatic and some having severe symptoms. Skewed X-Chromosome Inactivation (XCI) might explain some of this variability. But now, the underlying cause of the large variability in phenotype is therefore uncertain. Aim 1. To describe the change over a 6-year follow-up period in the structure and function of the heart and in function and muscle fat fraction in skeletal muscle of DMD/BMD carriers. 2. To explain the relationship between the XCI and the severity of the disease (phenotype). 3. To compare cardiac affection of female carriers of DMD/BMD to patients with BMD using new cardiac MRI techniques (spectroscopy and Dixon sequences). Methods This study contains three parts: Part 1 is a 6-year follow-up on 53 genetically verified female carriers of pathogenic DMD variants initially investigated in 2016-2018 at Copenhagen Neuromuscular Center, Rigshospitalet (Ethical journal no. H-16035677). In this part, the same 53 females will be investigated with the same measurements as 6 years ago to describe the progression of symptoms. All the follow-up results from this study will be compared to the results from 6 years ago. In Part 2 a muscle biopsy will be taken from 1-3 muscles (see "3.3.3 Description of outcomes) to investigate the XCI. To correlate the XCI to the phenotype, these patients will also undergo a muscle MRI and a Medical Research Council scale score for muscle strength (MRC). In Part 3 The cardiac structure and function in patients with BMD will be investigated using a cardiac MRI to compare the findings with that of female carriers. An MRC will carried out to investigate if the heart affection correlates to the muscle affection. Female carriers can decide whether to participate in Part 1, Part 2, or both. Patient with BMD can only participate in Part 3.
The purpose of this study is to describe the progression of tissular and functional myocardial abnormalities in patients with Duchenne muscular dystrophy using cardiac magnetic resonance imaging and blood biomarkers assays.
VA research has been advancing a high-performance brain-computer interface (BCI) to improve independence for Veterans and others living with tetraplegia or the inability to speak resulting from amyotrophic lateral sclerosis, spinal cord injury or stoke. In this project, the investigators enhance deep learning neural network decoders and multi-state gesture decoding for increased accuracy and reliability and deploy them on a battery-powered mobile BCI device for independent use of computers and touch-enabled mobile devices at home. The accuracy and usability of the mobile iBCI will be evaluated with participants already enrolled separately in the investigational clinical trial of the BrainGate neural interface.
The addition of SMA and DMD muscle diseases to newborn screening and premarital carrier screening has been controversial. In this study, researchers aim to measure the awareness level of SMA and DMD muscle diseases of individuals living in Turkey and to obtain information about their attitudes towards newborn and carrier screening and physiotherapy practices. Thus, this study aimed to determine the factors that affect people's views on this subject.
Muscular dystrophies are a heterogenous group of inherited muscular disorders characterized by progressive muscle weakness. Historically, these disorders are difficult to treat. In the last three decades, there is a great progress in molecular and genetic basis of these disorders; early diagnosis is achievable with proper clinical recognition and advanced genetic testing .Duchenne Muscular Dystrophy (DMD) is a neuromuscular muscular X-linked recessive disorders that belong to a group of disorders known as dystrophinopathies. DMD characterized by a progressive degeneration of skeletal muscles, with symptoms that manifest early, at around 3 years, causing loss of ambulation within the 13 years of life, followed by cardiac complication (e.g., dilated cardiomyopathy and arrhythmia) and respiratory disorders, including chronic respiratory failure. The unique medical treatment available is steroid therapy, which appears to prolong walking capacity by at least two years. Thus, besides medical treatment, the physical therapy in multidisciplinary care is imperative for alleviating muscle atrophy, skeletal deformities, and motor function deterioration.