Active clinical trials for "Muscular Dystrophy, Duchenne"

This protocol will exploit novel state of the art cardiovascular magnetic resonance techniques to examine important changes in the heart in children with muscular dystrophy. The purpose of this study is to compare cardiac magnetic resonance (CMR) with the collected cardiac outcome data obtained in protocol: PITT1109 - Cardiac Outcome Measures in Children with Muscular Dystrophy.

Investigator investigated that regression of hamstring flexibility and performance in children with Duchenne Muscular Dystrophy.

The aim of this study is to translate the "North Star Ambulatory Assessment (NSAA)" scale into Turkish and make its cultural adaptation and to demonstrate the reliability and validity of the Turkish version in patients with ambulatory DMD. For the translation into Turkish, validity and reliability of the NSAA, necessary permission was obtained from the developer of the questionnaire, Prof. Dr. Francesco Muntoni, via e-mail. In the study, first of all, the translation and cultural adaptation process will be completed, and then reliability-validity studies will be carried out.

This study is designed to evaluate the feasibility, wearability and participant satisfaction of novel outcome assessment tools in DMD patients which are performed in the home environment.

The purpose of this study is to investigate the paradoxical muscle enlargement in the calves and tongue seen in patients affected by Becker muscular dystrophy and Limb-girdle muscular dystrophy type 2I. The enlarged calves' muscle quality will be assessed primarily on the basis of the muscle structure on MRI and based on a calculation of muscle strength per cross-sectional area.The findings will be compared with results from non-affected controls. Additionally we want to describe the tongue muscle appearance on T1-weighted MRI.

The intent of this protocol is to provide continued access to vamorolone for subjects in the United States who Have Completed the VBP15-LTE, VBP15- 004, or VBP15-006 protocols (and are thereby ineligible to enroll in another trial ofvamorolone therapy), during the time a new drug application for vamorolone is under preparation and review.

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.

Relation between clinical and genetic features and acute digestive events in Duchenne muscular dystrophy patients

The aim of this study is to examine the prevalence of lower urinary tract symptoms (LUTS) in children with Duchenne Muscular Dystrophy (DMD) and the relationship between functional level, posture, muscle strength, pelvic floor muscle control, participation in activities of daily living, and quality of life that may be associated with these symptoms. Forty-five children with DMD between the ages of 5-18 (Age: 9.00±3.32 years, Weight: 31,10±12,59 kg, Height: 125,87±18,46 cm) and their families were included in the study. LUTS was assessed with Dysfunctional Voiding And Incontinence Scoring System, functional level with Brooke Upper Extremity Functional Classification and Vignos Scale, posture with the New York Posture Assessment Questionnaire, Baseline Bubble Inclinometer (10602, Fabrication Enterprises Inc. New York, USA) and Baseline Digital Inclinometer (12-1057, Fabrication Enterprises Inc, New York, USA), participation in activities of daily living was assessed with the Barthel Index and quality of life was assessed with the Pediatric Quality of Life Inventory 3.0 Neuromuscular Module. Also, using the Hoggan microFET2 (Hoggan Scientific, LLC, Salt Lake City UT, USA) device, hip flexors, quadriceps femoris muscles, shoulder flexors, elbow extensors, elbow flexors, trunk extensors and flexors were evaluated in terms of muscle strength. Evaluations were made once, and the associated factors were compared in the group with and without LUTS, and the relationship between the factors and the severity of LUTS was examined.

Many therapeutic trials in DMD exclude non-ambulatory boys and men. Rate of progression in these non-ambulatory patients has been studied but consensus has not been reached for what measures are most reliable and reproducible. Furthermore, any treatment trial would be expected to demonstrate improved function and improvement in quality of life. Therefore, function, strength, and quality of life must be understood and standardized. While the goal of this proposal is to standardize clinical outcomes for therapeutic trials, careful understanding of the progression of DMD in non ambulatory boys may also lead to better medical treatment.