Active clinical trials for "Muscular Dystrophy, Duchenne"

Duchenne muscular dystrophy (DMD) is a genetic disorder caused by an absence of dystrophin and characterized by progressive muscle degeneration. There is no cure for DMD at present but, there are several strategies under-researched for treatment of DMD such as steroid treatment, gene theraphy, exon skipping, stop codon read through and gene repair, cell theraphy and theraphy with drug that help to produce utrophin protein. The aim of this study is investigate the eficacy of human umblical cord mesenchymal stem cells on DMD and understanding if wild type gene can be transfered to the patient.

Duchenne muscular dystrophy (DMD) is a progressive neuromuscular disease for which no curative treatment has yet been identified, making it important to slow progression and improve the quality of life among affected boys and young men. Treatment with corticosteroids is standard of care for patients with DMD five years old and older, due to the robust observation that this intervention lengthens the interval prior to loss of ambulation but is associated with many side effects. This clinical trial will be conducted in the youngest age group able to receive corticosteroids orally and on whom study outcomes are measurable, ages 3 to 7 years. This is a randomized, double blinded, double masked, placebo-controlled clinical trial that will explore whether better synchronization of corticosteroid administration with the circadian rhythm will provide improved tolerability and at least comparable efficacy to current standards in which corticosteroids are always given in the morning. Furthermore, the trial provides a unique opportunity to rigorously evaluate corticosteroid effects in the young DMD patient, both for efficacy as compared to placebo and as a study of the impact of corticosteroid chronotherapy, or delayed release, on increased tolerability over standard therapy. The main hypothesis is that synchronization of the timing of corticosteroid dosing will improve medication tolerability in children, while maintaining (non-inferiority) the efficacy of corticosteroid. The study also offers a unique opportunity to measure several biomarkers as well as novel genetic modifiers that may further impact the response to corticosteroid in DMD.

The aim of this study was to develop a gait assessment instrument for Duchenne Muscular Dystrophy patients (DMD-GAS), and investigate its validity and reliability.The scale was developed considering the expert opinions which included 10 physiotherapists who had experience in the management of patients with DMD over the 2-round Delphi method, and the Content Validity Index (CVI) was calculated. The final version of the DMD-GAS that was agreed upon the experts consisted of 10 items, and each item scored between 0 and 2. The intra-rater reliability was established by the video analysis of children with a 1-month interval and inter-rater reliability was determined by the scores of 3 physiotherapists. The criterion validity was determined by investigating the relationship between the total score of the DMD-GAS and Motor Function Measure (MFM), 6 Minute Walk Test (6MWT), and the data obtained from GAITRite system.

This study seeks to develop and validate non-invasive assessments of cardiac and respiratory muscles with magnetic resonance imaging (MRI) to better predict the natural disease progression of Duchenne muscular dystrophy (DMD) in affected individuals over time, as well as determine whether peripheral skeletal muscle dysfunction can predict cardiopulmonary dysfunction. The central hypothesis is that non-invasive MRI measures of the heart, muscle, and peripheral skeletal muscles can sensitively predict future cardiopulmonary decline.

Investigator researched that the effect of trunk and lower extremity muscle strength on hamstring flexibility in children with Duchenne Muscular Dystrophy.

The aim of our study is to Assess skeletal muscle structural status in children with inflammatory myositis and Duchenne muscular dystrophy using musculoskeletal ultrasound and to perform a longitudinal follow up of these changes over 2 years and to assess the relation between these findings with clinical parameters, functional scales, biochemical and electromyographic tests.

The purpose of this study is to describe the experiences of parents, clinician researchers, and industry professionals who were involved in phase II clinical trials of Ataluren for Duchenne muscular dystrophy. We are especially interested in learning about motivations for being involved in the clinical trial, expectations of the trial, the experience of the trial, and relationships between the parents of children involved in the trial, the clinician researchers, and PTC Therapeutics. In addition, we would like to learn more about whether and how families and advocacy organizations experiences in following the progress of the drug, encouraging the clinical trial, and supporting the phase II trials may have affected participants thoughts and feelings about the study.

Restore a lost function is a special experience for people affected by neuromuscular evolutive diseases. "From the patient's point of view improvement is measured by regaining lost abilities,-by being able to do something -anything-today I couldn't do yesterday ". Upper limb pain, stiffness and activity limitations have a crucial role in reducing patients' autonomy and worsening quality of life. Real users' needs have been identified thought several workshops, and even if the commercial products might assure a benefit to some users and meet most of their requirements, so far a validation of the use of such devices by people with neuromuscular disease is missing. We aim at field-testing the improvement in arm functions provided by the use of some commercial devices and assessing their impact to users' quality of life and independence. This step is essential to assure a widespread accessibility to these devices for most of the potential users, possibly providing health providers with direction and guidance towards Health Technology Assessment. Clinical Trial design - The study proposes on-field validation of JAECO WREX, passive antigravity exoskeleton; and Armon Ayura, motorized arm exoskeleton for gravity compensation in a randomized controlled trial with crossover design. The clinical study will is multi-centric, involving both MEDEA and VALDUCE, and received the Ethical Committee approval.

International, multicenter, observational, longitudinal study to identify biomarker/s for Duchenne Muscular Dystropy (DMD) and to explore the clinical robustness, specificity, and long-term variability of these biomarker/s.

The task consists in reach as much bubbles as they can, the bubbles appear on the screen of the computer and should be reached in 10 seconds. To accomplish that, three different devices will be used: (1) Kinect for Windows Microsoft - which consists of a sensor that captures body movements (including upper limbs). And (2) the Leap Motion (LMCH, Leap Motion, Inc., San Francisco, CA, USA), and (3) Touch Screen. To describe motor impairments was used the Motor Function Measure Scale; Scale Vignos and Scale Egen Klassifikation;