View clinical trials related to Duchenne Muscular Dystrophy.
Filter by:The main objective of this study is to evaluate the efficacy of SRP-4045 (casimersen) and SRP-4053 (golodirsen) compared to placebo in participants with DMD with out-of-frame deletion mutations amenable to skipping exon 45 and exon 53, respectively.
Duchenne Muscular Dystrophy (DMD) is a X-linked genetic disorder primarily affecting males, resulting in an absence of dystrophin which ultimately leads to progressive muscle degeneration. Patients with DMD progressively lose functional abilities of movement, breath, and eventually the ability to circulate blood. Currently, there is no cure for DMD, although several strategies are being tested for treatment, none have yet proven to be sufficient. Children with DMD are generally divided into two groups based on severity or progression of the disease, non-ambulatory and ambulatory. Ambulatory patients are capable of walking independently while non-ambulatory patients cannot walk independently.
The literature on outcome measures assessing upper limbs in Duchenne muscular dystrophy (DMD) is quite scanty. While there have been considerable advances for ambulant DMD boys, no prospective study has so far been devoted to outcome measures in non ambulant patients, with increasing complaints from families and patients. This information appears to be highly important not only for a better understanding of the progression of the disease but also for possible enrollment of patients in future trials. The aim of this project is to identify outcome measures for non ambulant patients in an Italian population of DMD patients. At least 200 non ambulant DMD boys and adults will be included in the study. All patients will be assessed using the newly developed Performance of Upper limb (PUL) test. This measure will be used at baseline and 6 and 12 months after baseline. This will allow to monitor possible changes over time and the rate of changes in patients with different level of ability and age. As part of this study the investigators will also correlate possible changes in upper limb function with other measures of care and function such as the EK scale. The investigators aim to assess the suitability of the individual measures in a large number of patients, trying to establish whether whole scales or individual items appear to be relevant across ages and level of abilities. The investigators also aim to assess the suitability of the selected measures in a multicentric setting and the quantity of training required The data collected will also be analysed using Rasch analysis in order to improve the statistical properties of the measures used.
We will utilize the Cooperative International Neuromuscular Research Group (CINRG) network to collect and store tissue and blood from patients with Duchenne muscular dystrophy (DMD) with specific genetic mutations within the dystrophin gene that could be treated by antisense oligonucleotide (AO) drugs.
The purpose of this study is to evaluate and optimize advances in radio frequency (RF) coil magnetic resonance imaging (MRI) technology at Cincinnati Children's Hospital Medical Center (CCHMC).
Duchenne muscular dystrophy (DMD), the most common muscular dystrophy, leads to skeletal and cardiac muscle damage. Treatment of pulmonary complications has improved survival; however, heart muscle disease or cardiomyopathy has emerged as a leading cause of death, typically by the third decade. Although myocardial changes begin early, clinically significant heart disease is rarely detected in the first decade of life. Consequently, DMD cardiomyopathy frequently goes unrecognized (and untreated) until advanced (and irreversible). Current DMD cardiovascular care guidelines recommend beta-blockers and angiotensin converting enzyme inhibitors (ACEIs) when decreased ejection fraction (EF) is noted by echocardiography (echo); however, this strategy has not significantly improved outcomes. Our team has recently made a breakthrough in a mouse study, showing in a model that causes the same heart muscle disease in humans with DMD adding an old medicine traditionally used for high blood pressure and late-stage heart failure can actually prevent heart muscle damage. Because of this drug's proven safety in both children and adults, it is ready to be studied immediately in an RCT in patients with DMD to hopefully show, as we did in mice, that we can prevent the devastating consequences of heart muscle damage.
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.