Active clinical trials for "Muscular Dystrophy, Duchenne"

The aim of the proposed research is to compare two commonly used pediatric strength testing measures: handheld myometry (HHM) and CINRG Quantitative Measurement System (CQMS), with the goal of identifying a sensitive and valid tool for measuring muscle strength in children with DMD. The data obtained from this study will be used to make recommendations for strength measurement endpoints in prospective muscular dystrophy trials and provide more reliable and accurate recommendations in the clinic for strength assessment. This study will be performed at six participating sites in the Cooperative International Neuromuscular Research Group (CINRG).

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.

The loss of ability to walk in many children with DMD (Duchenne muscular Dystrophy) is a pejorative event. Biomechanical and morphological unknowledge about the loss of the walk ability in children with DMD is an obstacle in reeducative, pharmacological or surgical therapeutic targets.

Duchenne muscular dystrophy (DMD) is the most common and devastating form of muscular dystrophy, caused by an X-chromosome gene mutation resulting in the absence of the protein dystrophin. Gene therapy by exon skipping or stop codon read-through and cell therapy are at the stage of clinical assays with very promising results. Nevertheless, they will not allow a complete cure of DMD patients and they will concern only specific types of mutations. It is therefore crucial to develop other therapeutic strategies related to the natural history of the disease and targeted not on the dystrophin itself, but on the consequences of its absence. Another crucial pathophysiological pathway in DMD is muscle cell calcium homeostasis, particularly via the ryanodine recepteur (RyR1). Our study focus on the relationship between endomysial fibrosis, abnormal inflammation response and calcium homeostasis dysfunction which are not entirely established in DMD. The identification of the biological mechanisms that play a role in the severity of the phenotype, particularly endomysial fibrosis, should allow the development of targeted pharmacotherapy as a complementary strategy for the future treatment of DMD.

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.

Children with Duchenne Muscular Dystrophy (DMD) have difficulties towards the end of the ambulatory period, especially in activities that require lower extremity proximal muscle strength such as walking, climbing stairs, standing up without sitting. Stair climbing / descending activity is a complex activity that requires joint stability, correct muscle synergy and timing. When the literature is examined; It has been observed that the performance of stair climb up and down activity in individuals with neuromuscular disease has been evaluated with various clinical applications. In recent studies, there are surface electromyography (EMG) studies evaluating various aspects of stair climbing and descending activity. Surface EMG; is a technique for neuromuscular evaluations that is frequently used in both research and clinical applications, noninvasive, and can be used in areas such as neurophysiology, sports science and rehabilitation. Our study was planned to examine the muscle activations in the lower limb muscles involved in climbing up stairs activity in children with DMD and to compare healthy children with children with DMD and children with different levels of DMD. Hypothesis originating from the investigation: H0: There is no difference in the muscle activations measured by surface electromyography (EMG) of the involved lower extremity muscles during climbing up stairs activity between level 1 and level 2-3 children with early DMD. H1: There is a difference in the muscle activations measured by surface electromyography (EMG) of the involved lower extremity muscles during climbing up stairs activity between level 1 and level 2-3 children with early DMD. H2: There is no difference in the muscle activations measured by surface electromyography (EMG) of the involved lower extremity muscles during climbing up stairs activity between children with DMD and healthy children. H3: There is a difference in the muscle activations measured by surface electromyography (EMG) of the involved lower extremity muscles during climbing up stairs activity between children with DMD and healthy children.

The purpose of this study is to establish the largest long-term assessment of people with Duchenne muscular dystrophy (DMD). In this study, the investigators associated with the Cooperative International Neuromuscular Research Group CINRG) will take a detailed look (for a minimum of eight years) at DMD participant's physical abilities, the medical problems they experience, and how they use health care services. Physical abilities will be compared to a group of healthy controls. The second purpose of this study is to find out whether small, normal differences in the genetic makeup of people with DMD (called "single nucleotide polymorphisms" or "SNPs") affect how their disease progresses and relates to muscle strength/size and steroid response. The third purpose of this study is to study genetic variations associated with DMD. The final purpose of this study is to determine whether certain biomarkers are present in people with DMD and not in healthy controls.

Novel emerging therapies for Duchenne Muscular Dystrophy (DMD) require a deeper understanding of DMD natural history. This study aim to assess the natural history of DMD through a composite assessment tool capable of capturing disease progression linking ambulant and non-ambulant phases of the disease.

Nearly all patients with Duchenne's Muscular Dystrophy (DMD) have scoliosis. Posterior instrumented spinal fusion, which is a surgery to correct scoliosis, has been shown to improve quality of life and satisfaction of both parents and families. The progressive muscular weakness leads to the development of scoliosis soon after the child has become unable to walk. The muscular weakness and scoliosis also affect the pulmonary function of these children. Pulmonary Function Tests (PFT) have been used to determine "pulmonary fitness" prior to surgery as a way to determine how well or if the child will tolerate surgery. Children with poor results on the PFT are determined to be too fragile to tolerate such a large operation. The physicians conducting this study feel that the PFT may be inaccurate and that this may not be the best single test to determine "pulmonary fitness". The physicians conducting the study think things like the time of day the study is done, how tired you are when you complete the test, and how well you understand the test may affect the results of the test.

This is an open label expanded access program for boys, 3 to 12 years old, for the treatment of Duchenne muscular dystrophy (DMD) with confirmed mutation(s) in the dystrophin gene that is amenable to skipping of exon 53.