View clinical trials related to Muscular Dystrophies.
Filter by: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.
This protocol proposes to establish gene expression profiles of muscular dystrophies for correct diagnosis and for development of experimental therapies for these diseases.
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The incidence of Duchenne Muscular Dystrophy (DMD) is approximately 1 in 3.500 male newborns. During its progression there is loss of mobility, swallowing difficulties and a significant reduction in respiratory capacity. Due to the severity and consequences, is inevitable the need for a caregiver, that normally rely the mother.
Muscular dystrophy is a group of disorders that are characterized by progressive muscle weakening and loss of muscle mass, caused by defects in muscle proteins. Muscular dystrophy is almost always inherited disorders, and so far, no curative treatments exist. Previous studies have shown that endurance training significantly improves fitness and self-assessed muscle function in a variety of muscular dystrophies. In this study, we wish to investigate whether patients with Bethlem myopathy (a specific form of muscular dystrophy) also benefit from endurance training. The study consists of two test days, a 10-week training period and five blood tests. Patients will be required to train, three times per week, for 10 weeks, on a bike ergometer with a specific training intensity, under pulse rate monitoring. The training period will be flanked by two test days, where we will determine, and compare the patients' muscle strength and fitness level, from before to after the training program. The patients conditioning level will be determined from a 15 minute cycle ergometer test and patients will undergo three functional tests to determine their functional muscle strength. We will as a safety measure analyze blood tests before, during and after the training program for the muscle enzyme creatine kinase (an indicator of muscle damage) and through adverse effects as reported by patients during weekly telephone-consultations with the Principal investigator. We anticipate, that Bethlem myopathy patients will have a similar rise in fitness level and functional muscle strength, as that seen in patients with other forms of muscular dystrophy, who undertake a similar training program.
By supplying an adequate amount of calcium and vitamin D with the addition of weekly bisphosphonate, the investigators will be able to increase bone mass and decrease the incidence of fragility fractures in these children with muscular dystrophy. The investigators think this treatment will also decrease the intensity of pain frequently present in these patients and slow the progression of scoliosis.
The primary objective of this investigation is to assess the effectiveness of transcutaneous electrical nerve stimulation applied using VECTTOR to reduce the symptoms of Duchenne Muscular Dystrophy and reduce the impact of DMD upon the participants' quality of life. The primary outcome measures will include: 1. increased muscle strength, 2. increased range of joint motions and 3. improved sleep parameters of ASI, N3 and REM.
(-)-Epicatechin will be evaluated for the treatment of progressive muscle loss and impaired skeletal muscle function in Becker Muscular Dystrophy (BMD) patients.
This research study includes children ages 5 to 20 years old with Collagen Type 6 Congenital Muscular Dystrophy or Laminin α2-related muscular dystrophy (LAMA2-MD). The goal of this study is to measure the effect of breathing exercise to stretch the chest in slowing the loss of breathing function. The breathing stretches are done with a machine called Cough Assist®. The study is being done at Cincinnati Children's Hospital Medical Center and Children's Hospital of Philadelphia. The study involves traveling to one of these 2 centers for 4 visits over 13 months. The study also includes 3 sets of phone visits called Daily Phone Diaries. Participants will be "randomized" into one of 2 study groups in a 1:1 ratio. The treatment group will use the Cough Assist® machine twice a day for 15 minutes. The control group will continue with their current daily care. The Cough Assist® is a machine that blows air into the lungs (insufflation) and helps pull air out of the lungs. The investigators will be blowing enough air into the lungs to cause a stretch to the chest. This is called hyperinsufflation. Study visits will last about 5 to 6 hours and will include medical and quality of life questionnaires and pulmonary function tests to determine lung function and the individualized settings to be prescribed for the Cough Assist®.
Dystrophinopathy is a disease continuum that includes Duchenne muscular dystrophy, which develops in boys. It is caused by a mutation in the gene for dystrophin, a protein that is important for maintaining normal muscle structure and function. Loss of dystrophin causes muscle fragility that leads to weakness and loss of walking ability. A specific type of mutation, called a nonsense (premature stop codon) mutation is the cause of dystrophinopathy in approximately 10-15 percent (%) of boys with the disease. Ataluren is an orally delivered, investigational drug that has the potential to overcome the effects of the nonsense mutation. The main goal of this Phase 3 study is to evaluate the effect of ataluren on walking ability. The effect of ataluren on physical function, quality of life, and activities of daily living will be evaluated. This study will also provide additional information on the long-term safety of ataluren.