Active clinical trials for "Muscular Dystrophies"

The purpose of this study is to improve the understanding of the treatment goals that a person with Duchenne Muscular Dystrophy (DMD) or the caregiver may be most interested in, based on the severity of the person's disease. Data will be collected by online survey when the participant accepts the study invitation ("RSVP questionnaire") and telephone interview on the functional burden and self-identified treatment goals from the perspective of people with DMD and their caregivers. Interviews will be analyzed to help identify things important to Duchenne families to measure in clinical trials and to inform the selection of key concepts of interest and development of future clinical outcome measures, including observer reported outcomes/patient reported outcomes. The study will be conducted in the United States and will enroll between 45 and 120 participants 11 years or older living with DMD as well as their caregivers. The time commitment for the online survey and the telephone interview is about one hour. It is anticipated that the entire study will be completed within one year.

The aim of this population based study is to examine, quantify and describe physical activity level in Norwegian boys with DMD, and to compare the level of physical activity level between boys with DMD and age matched healthy boys. A co-project will validate ActiGraph accelerometry to measure physical activity in boys with DMD.

HRV is attained using a Polar RS800CX. Then, evaluated through linear, non-linear and chaotic global techniques (CGT). Forty-five male subjects were included in the DMD group and age-matched with forty-five in the healthy Typical Development (TD) control group. They were assessed for twenty minutes at rest sitting, and then five minutes whilst performing the maze task on a computer.

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.

Adult myotonic muscular dystrophy (Steinert's disease) is the most common inherited neuromuscular disorder. Cardiac rhythm disturbances occur frequently in this disease state and may be responsible for up to one-third of deaths. In this study, we intend to evaluate the utility of non-invasive electrocardiographic screening methods and history in predicting serious arrhythmic events.

Hypertrophic cardiomyopathy (HCM) is a genetically inherited disease affecting the heart. It causes thickening of heart muscle, especially the chamber responsible for pumping blood out of the heart, the left ventricle. This condition can cause patients to experience symptoms of chest pain, shortness of breath, fatigue, and heart beat palpitations. Researchers believe the disease may be caused by abnormalities in the genes responsible for producing proteins of the heart muscle. Oculopharyngeal muscular dystrophy (OPMD) is another genetically inherited disease. This condition affects the muscles of the eyes and throat causing symptoms of weak eye movements, difficulty swallowing and speaking, and weakness of the arms and legs. In previous studies researchers have found that several patients with hypertrophic cardiomyopathy (HCM) also had oculopharyngeal muscular dystrophy (OPMD). Researchers are interested in learning more about how these two diseases are associated with each other. In this study, researcher plan to collect samples of muscles (skeletal muscle biopsies) from patients belonging to families in which several members have inherited one or both of these diseases. The muscle samples will be used to link the muscle abnormalities with the specific genetic mutations. Patients participating in this study may not be directly benefited by it. However, information gathered because of this study may be used to develop better techniques for diagnosing and treating these conditions.

The clinical diagnosis of Facio-Scapulo-Humeral Muscular Dystrophy (FSHMD) requires the movement of patients to a medical centre and a lengthy examination involving medical personnel, and may be underestimated in the most moderate cases. Thus, it requires costly and burdensome logistics both for patients living in remote areas and having to undertake long and expensive travel, and for clinical staff. This is an obstacle to large-scale diagnosis. The investigators plan to alleviate these limitations through the use of digital facial analysis technology that would enable large-scale diagnosis of patients through telemedicine. Motivated by the reasons described above and by preliminary results, the goal of this project is to develop methods to automatically detect and monitor the progression of this disease using computer vision algorithms. In order to do this, the investigators will first build up a bank of images and videos of patients with moderate to severe FSHMD, patients with other muscular dystrophies causing facial muscle asymmetry, as well as control subjects without facial involvement. Each of these subjects will be characterized clinically and genetically. The investigators will then develop computer tools using video and audio sensors capable of detecting facial muscle damage in patients with FSHMD and differentiating them from control subjects on the one hand and patients with other muscular dystrophies on the other hand. The investigators wish to use the most recent advances in terms of "deep-learning" and improve their architecture in order to achieve our objectives. In addition to this holistic approach, the investigators will study facial recognition approaches capable of accurately identifying different facial areas on images, as well as the relevance of different statistical properties of facial dynamics (duration and intensity). These algorithms will also be useful for monitoring the evolution of facial damage in order to develop a specific measurement tool that could be used in patient follow-up and in clinical trials on early stages of the disease.

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.