View clinical trials related to Muscular Dystrophies.
Filter by:This trial is a double-blind randomized clinical trial of lisinopril versus losartan for the treatment of cardiomyopathy in Duchenne Muscular Dystrophy (DMD). Both drugs are known to be effective for the treatment of dilated cardiomyopathy. ACEi have been reported to delay the onset and progression of left ventricle dysfunction in children with DMD. Multiple studies show therapeutic efficacy of losartan in animals with cardiomyopathy related to muscular dystrophy and in patients with cardiomyopathy from diverse causes. ARBs are often reserved for patients in whom heart failure is not adequately treated or where side effects preclude the use of an ACEi. However, in DMD, losartan might be a better choice as a first line drug because of studies demonstrating a potential benefit for skeletal muscle in the mdx mouse. Considering that both skeletal and cardiac muscles are major contributors of the disability of DMD, a drug that could improve both heart and skeletal muscles simultaneously would need consideration as the drug of choice for the cardiomyopathic DMD patient.
Patients with underlying neuromuscular disorder (NMD) often suffer from weakness in the inspiratory and expiratory muscles. Consequently they do not have the strength to generate the minimum flow of 160 to 300 liters/minute for an efficient cough function. The restricted cough function allows secretion to accumulate, which in turn causes narrowing of the airway lumen and makes ventilation of the neuromuscular patient even more difficult. The patient's susceptibility to infection increases again and the vicious circle repeats itself. Severe secretion retention may even lead to ventilator failure. Effective secretion and cough management instead reduces the risk for stay in hospital. Therefore, secretion and cough management is a mandatory part of the therapeutic concept for treating patients with neuromuscular disease. The therapeutic efficacy of the Lung Insufflation Assist Maneuver(LIA) integrated in the ventilator VENTIlogic LS-plus manufactured by Weinmann GmbH+Co KG was studied in a pilot study carried out by the Dep. for Pediatric Pulmonology and Sleep Medicine at the University Hospital of Essen/Germany in cooperation with Research & Development at Weinmann GmbH &Co KG, Germany . The objective of the pilot study was to examine the therapeutic efficacy of LIAM as a cough support function in patients with neuromuscular disease and indications for mechanical ventilation. We hypothesized that i) a certain insufflation maneuver pressure may be optimal to achieve the highest individual peak cough flow and ii) that this pressure is below the pressure needed to achieve the maximum insufflation capacity. We define the lowest insufflation capacity at which the best individual PCF can be achieved as optimum insufflation capacity (OIC). The study was performed using two different techniques in order to demonstrate that findings are not dependent on maneuver details but are rather based on effects of maneuver pressure. The protocol was limited to techniques which do not require breath stacking: i) insufflation with an Intermittend Positive Pressure (IPPB) device and ii) with the VENTIlogic LS using LIAM.
This study is designed to provide 6-months continuous dosing with the study medication, called HT-100, on participants who successfully completed the predecessor study (HALO-DMD-01). The main purpose of this study is to assess chronic safety, tolerability, pharmacodynamic activity (testing the drug's effect on DMD) and population pharmacokinetics (measuring how much drug is in the bloodstream) in participants with a broad spectrum of Duchenne muscular dystrophy (DMD).
This is an open-label, dose escalation gene transfer therapy study evaluating the safety of SRP-9004 (patidistrogene bexoparvovec) via isolated limb infusion (ILI) administration in approximately 6 participants with LGMD2D.
The aim of the study was to compare the severity of illness between groups of patients (Facio-Scapulo-Humeral Dystrophy = FHSD1, FSHD2 and patients both FSHD1 and FSHD2). Despite advances in research on the subject, answers are still needed on these diseases. We also aim to determine whether the chromosomal genetic abnormality is involved in other diseases and the frequency of this mutation in the population of patients FSHD. This study will increase our knowledge of the two forms of FSHD who present a common pathophysiological mechanism and may occur together in the same family with a worsening of the clinical phenotype worsening . In addition, epigenetic differences between FSHD type 1 and type 2 seems to have clinical consequences requiring appropriate management
The study will give a consent based epidemiological overview of Norwegian patients with Duchenne muscular dystrophy younger than 18 years of age. Genotype of the population will be described. Longitudinal development of growth, bone health, and , when applicable, puberty over a two year period will be studied. Questionnaires regarding quality of life will also be an important part of the study.
Background: - Cerebral palsy (CP) is the most common motor disorder in children. CP often causes crouch gait, an abnormal way of walking. Knee crouch has many causes, so no single device or approach works best for everybody. This study s adjustable brace provides many types of walking assistance. Researchers will evaluate brace options to find the best solution for each participant, and whether one solution works best for the group. Objective: - To evaluate a new brace to improve crouch gait in children with CP. Eligibility: - Children 5 17 years old with CP. - Healthy volunteers 5 17 years old. Design: - All participants will be screened with medical history and physical exam. - Healthy volunteers will have 1 visit. They will do motion analysis, EMG, and EEG described below. - Participants with CP will have 6 visits. - Visit 1: <TAB>1. Motion analysis: Balls will be taped to participants skin. This helps cameras follow their movement. <TAB>2. EMG: Metal discs will be taped to participants skin. They measure electrical muscle activity. <TAB>3. Participants knee movement will be tested. <TAB>4. Participants will walk 50 meters. <TAB>5. Participants legs will be cast to make custom braces. - Visit 2: - Participants will wear their new braces and have them adjusted. - Steps 1 3 will be repeated. - EEG: Small metal discs will be placed on the participants scalp. They record brain waves. - Participants will have electrical stimulation of their knees and practice extending them. - Participants will take several walks with the braces in different settings. - Visits 3 5: participants will repeat the walking and some other steps from visit 2. - Visit 6 will repeat visit 2.
The purpose of the study is to see whether BMN053 is safe and effective to use as medication for Duchenne muscular dystrophy (DMD) patients with a mutation around location 53 in the DNA for the dystrophin protein.
Whole-body vibration therapy (WBVT) is a novel, non-pharmacological intervention aimed at improving muscle strength and endurance as well as bone density. It holds promise for children with neuromuscular disorders such as Duchenne muscular dystrophy (DMD) since muscle weakness results not only from muscle breakdown but also physical inactivity and muscle disuse atrophy. Weak DMD patients may increasingly limit their physical activity due to fear of falling or loss of independence (e.g. difficulty rising to stand without assistance). Prolonging the length of time boys with DMD are ambulatory is important for delaying complications of this disease (lung hypoventilation, scoliosis) as well as maintaining bone health. We propose to conduct a pilot study of WBVT in young boys with Duchenne muscular dystrophy (DMD). The primary outcome will be to document safety and feasibility of WBVT in this patient population. The secondary outcomes will evaluate changes in muscle strength and endurance. Bone health will also be examined as part of routine clinical care. The study will include 20 ambulatory boys with DMD; patients will be randomized (1:1 allocation) into 2 groups: WBVT treatment or no WBVT treatment (controls). Treatment groups will consist of 10 boys undergoing daily WBVT in an 8-week, open-label trial.
Laminin alpha-2 (LAMA2)-related muscular dystrophy (LAMA2-MD, Merosin Deficient CMD) is a form of congenital muscular dystrophy (CMD). A person with LAMA2-MD will have changes on brain imaging (MRI), a decrease or absence of the protein merosin (laminin 211) on muscle or skin biopsy and changes in the LAMA2 gene that are inherited from both parents. Several studies have described the changes on brain MRI. Brain changes on MRI do not correlate with the partial reduction or absence of merosin on muscle or skin biopsy. 8-30% of people with LAMA2-MD develop seizures. The types of seizures, electroencephalogram changes and common treatment regimens have not been characterized. This study will review the magnetic resonance imaging (MRI) changes, determine whether certain brain MRI changes are linked to seizures and define the common seizure treatment regimens.