View clinical trials related to Muscular Dystrophies.
Filter by:This is a multicenter prospective non-drug screening study. The working period is 12 months. There is no research product to be followed or used in the study. Demographic data, medical and family histories of the patients included in the study will be collected at the first admission. The following laboratory values of the patients will be collected: - Alanine Transaminase (ALT) - Aspartate Transaminase (AST) - Gamma Glutamyl Transferase (GGT) - Creatine Phosphokinase (CPK) - In addition, physical examination information and Abdominal USG and Liver Biopsy Results, if any, will be collected. Following the above scans, enzyme analysis for late-onset Pompe disease in boys and girls and adolescents with high CPK levels and molecular genetic tests for Duchenne muscular dystrophy in boys and adolescents with high CPK levels will be performed.
The main objective of this study is to evaluate the efficacy of Viltolarsen compared to placebo in Duchenne muscular dystrophy (DMD) patients amenable to exon 53 skipping.
The purpose of this study is to evaluate the safety and efficacy of oral weekly glucocorticoid steroids in patients with Becker Muscular Dystrophy (BMD), an inherited disorder in which patients experience weakness of the legs and pelvis, and Limb Girdle Muscular Dystrophy (LGMD), an inherited disorder in which patients experience progressive muscular weakness predominately in their hip and shoulders. The primary objective is safety which we the investigators will measure using laboratory testing and forced vital capacity (FVC), a breathing test that measures the strength of your lungs. The secondary objective is efficacy which will be measured by a change in MRI muscle mass, improved muscle performance, and quality of life. The investigators hypothesize that patients who receive oral weekly glucocorticoid steroids will have improviements in strength and quality of life compared to their baseline. Furthermore, the investigators anticipate that oral weekly glucocorticoid steroids will not have significant adverse impact on patients.
Disability brings many psychosocial problems in society. The effects of the health of a disabled child on the psychological health and quality of life of the family are inevitable. It has been shown that families with disabled children are exposed to chronic stress, have communication problems and social isolation between parents, and have to spend extra time for the care of children. It is reported in the literature that parents with mentally or physically handicapped children are more stressed and have higher levels of anxiety than parents without children with disabilities. Since activity limitations, participation restrictions, and social and physical barriers are different in each disability group, caregivers may be affected differently. Comparing the quality of life of caregivers of different disability groups and guiding the family in line with the results obtained is important for public health.As the time spent on care may vary in different types of disability, families' levels of distress and anxiety may also be different.There are no studies in the literature comparing the anxiety level of the parents of the individuals with Muscular Dystrophy (MD), Spina Bifida (SB), Cerebral Palsy (SP) and Down Syndrome (DS), which have a very important place in the permanent disability groups, by evaluating the family effect levels and health-related quality of life. . For this reason, this study was planned to investigate the quality of life, anxiety, level of disease and social effects of mothers with different physical disabilities.
This is a study to evaluate the safety and efficacy of Losmapimod in treating patients with Facioscapulohumeral Muscular Dystrophy (FSHD) over 48 weeks.
This is a pilot study to examine the diagnostic utility of a novel transmembrane surface sensor, and compare signals obtained with the transmembrane sensor to conventional needle EMG signals from healthy volunteers to those with documented neurologic pharyngeal muscle dysfunction (ALS and muscular dystrophy) and to those with severe OSA.
In a study from 2003 the investigators showed that adult patients with very low skeletal muscle mass (spinal muscular atrophy (SMA) type II, Duchenne muscular dystrophy, congenital muscular dystrophy) are prone to develop hypoglycemia during prolonged fasting. Since then case reports have described the same phenomenon with hypoglycemia and metabolic crises in children with low skeletal muscle mass provoked by infection, fasting and surgery. Pathophysiological mechanisms of metabolism have never been investigated in adults or children with SMA II. Thus the investigators studied fat and glucose metabolism during prolonged fasting in patients with SMA II and LAMA 2 and compared results to those found in healthy controls.
This study examine whether an evidence-based individual user-preferred exercise program will increase the physical activity level in boys with Duchenne muscular Dystrophy (DMD).
The study is a feasibility study or pilot study, that is a clinical investigation to acquire the preliminary information on a motorized exoskeleton (BRIDGE / EMPATIA exoskeleton) for the movement of the upper limb in order to develop it, including design changes. The primary objective of the clinical trial is to assess the fit, safety and usability of the device in supporting the execution of daily activities for patients suffering from muscular dystrophy. The risk analysis for the BRIDGE / EMPATIA device does not present particular criticalities that preclude the use of the device in the target population. In any case, during the trial eventual adverse events are recorded for the verification of safety..
This study is being conducted to determine if DMD patients / families and healthcare providers experience burdens related to access, and if so, to identify them, and to determine life impacts to the patient, if any, of these burdens. Data from healthcare providers will be collected by an online survey and from patients/families by one on one telephone interview.