View clinical trials related to Muscular Atrophy.
Filter by:Spinal muscular atrophy (SMA), an autosomal recessive disorder, is characterized by muscle weakness due to degeneration of anterior horn cells in the spinal cord and brain stem nuclei. It has a variable incidence of 1 in 6700 to 1 in 25000 live births and prevalence of 0.12 to 25 per 10,000 populations in different geographic areas and genetic constitution. A homozygous deletion/mutation involving exon 7 in SMN1 (survival motor neuron 1) is present in around 95% of the cases, resulting in the biochemical deficiency of the SMN protein. A genomic duplication at the same locus produces nearly identical SMN2 (survival motor neuron 2) that differs from SMN1 by a nucleotide substitution that promotes exon 7 exclusion thus giving rise to only a fraction of the full length protein. Phenotypic variation in SMA correlates with the number of SMN2 gene copies and the level of SMN protein in cells. Several hypotheses including defective inhibition of apoptosis, glutamate excitotoxicity and lack of a neurotrophic factor(s) in nerve or muscle have been speculated in the pathogenesis of SMA. Valproic acid (VPA), a histone deacetylase (HDAC) inhibitor, directly increases SMN expression in SMA patient-derived cell lines in vitro. Till date 3 open label trials and 1 placebo controlled RCT of VPA in human subjects have been published, all indicating a possible benefit in strength and/or motor function. Till date there is no effective therapy for SMA. Therapy is mainly supportive and palliative which can prolong lifespan and prevent complications to some extent without actually curing the disease. Children with SMA may have a reduced capacity to synthesis carnitine consequent to significantly diminished skeletal muscle mass. VPA independently inhibits carnitine transport and its metabolites deplete carnitine levels by binding to them. So along with valproate these patients should be supplemented with carnitine. With this background the investigators have planned a double blind randomized placebo controlled trial of Valproate and levocarnitine in 60 children (30 each in intervention and control arm) with Spinal Muscular Atrophy aged 2-15 years over a 2 year period with one baseline and four follow up visits. The study will be conducted in the Department of Pediatrics, AIIMS at the Myopathy clinic.
The purpose of this study is to collect blood samples to enable validation of genetic testing for diseases within a multi-disease carrier screening panel. Samples will be collected from adult women or men who have previously tested positive as carriers for various recessive conditions. These are healthy adults who carry a mutation that might place them at increased risk of having a child with a specific genetic disorder. Study participation will be open to adults that were previously tested as part of their routine medical care and where test results demonstrated positive carrier status for a specific genetic disease. Samples will be tested for the disease mutation for which the subjects provides documentation of prior testing.
The purpose of this study is to assess whether 4-AP (Dalfampridine-ER, Ampyra) improves walking ability and endurance in adult patients with Spinal muscular atrophy (SMA) Type 3 compared to placebo and whether the duration of treatment affects outcome.
Confinement to bed, which occurs in many pathological situations, induces a muscle atrophy and a loss of muscle strength. Muscle atrophy is associated to impaired performance in motor tasks, such as posture and locomotion, and is therefore a major cause of loss of autonomy. It requires a stay in follow-up and rehabilitation service, and thus lengthens the duration of hospitalisation. Data underline the importance of afferent input integrity in the maintenance of muscle characteristics and postural control, and suggest that countermeasure programs based on the stimulation of proprioceptive inputs could be efficient to prevent muscle atrophy and falls. In particular, fundamental studies performed in rodents by the investigators laboratory have demonstrated that the adverse structural and functional adaptations which occur during muscle deconditioning can be counteracted through adequate physiological stimuli such as activation of proprioceptors. Based on this scientific expertise, the investigators aim is thus to prevent muscle atrophy and its functional consequences on posture and locomotion, following a surgical intervention in humans . The investigators will develop a device allowing stimulation of foot and ankle proprioceptors. In order to facilitate the evaluation of its efficiency, the device will be tested on a selected population confined to bed during a post-operative period (knee replacement). It efficiency will be evaluated by means of three parameters: muscle force of ankle plantar flexor, muscle volume of lower limb muscles, functional outcome (gait and balance analysis). The technique developed in the present project could bring benefits to patients confined to bed, or in elderly. Preventing or retarding development of muscle atrophy will beneficiate to health and quality of life of these patients. In addition, this device might allow to consider therapeutic strategies for prevention of atrophy in neuromuscular pathologies.
This project is designed to use MRI to evaluate pre- and post-arthroplasty hips; the specific aims of this project are three-fold. First, the investigators intend to compare the amount of muscle atrophy and tendon damage that occurs around the hip between two commonly-used operative approaches: the direct-anterior approach and the posterior approach. Second, the investigators aim to provide baseline data on the amount of muscle atrophy and tendon damage that should reasonably be expected to occur with both of these approaches. Third, the investigators will document the degree of recovery of the periprosthetic soft tissues post-surgery in both patient groups. The investigators first hypothesis is that the posterior approach will demonstrate significantly more damage to the abductors, piriformis, and short external rotators than the direct anterior approach, which will demonstrate minimal soft tissue damage. The investigators second hypothesis is that both surgical approaches will cause some degree of baseline muscle damage and atrophy, in a predictable pattern. The investigators third hypothesis is that each of the surgical approaches inherently cause some degree of soft tissue damage, and that the periprosthetic soft tissues that are incised during the surgical exposure will recover in a predictable pattern which is consistent but unique within each group
Loss of muscle protein is generally a central component of weight loss in Chronic Obstructive Pulmonary Disease (COPD) patients. Gains in muscle mass are difficult to achieve in COPD unless specific metabolic abnormalities are targeted. The investigators recently observed that alterations in protein metabolism are present in normal weight COPD patients. Elevated levels of protein synthesis and breakdown rates were found in this COPD group indicating that alterations are already present before muscle wasting occurs. The investigators recently observed that in order to enhance protein anabolism, manipulation of the composition of proteins and amino acids in nutrition is required in normal-weight COPD. Intake of casein protein resulted into significant protein anabolism in these patients. The anabolic response to casein protein was even higher than after whey protein intake. A substantial number of COPD patients, underweight as well as normal weight to obese, is characterized by an increased inflammatory response. This group failed to respond to nutritional therapy. Previous experimental research and clinical studies in cachectic conditions (mostly malignancy) indicate that polyunsaturated fatty acids (PUFA) are able to attenuate protein degradation by improving the anabolic response to feeding and by decreasing the acute phase response. Eicosapentaenoic acid (EPA) (in combination with docosahexaenoic acid (DHA)) has been shown to effectively inhibit weight loss in several disease states, however weight and muscle mass gain was not present or minimal. Until now, limited research has been done examining muscle protein metabolism and the response to EPA and DHA supplementation in patients with COPD. It is the investigator's hypothesis that supplementation of 2g/day EPA+DHA in COPD patients during 4 consecutive weeks will increase the muscle anabolic response to a high quality protein supplement as compared to a placebo, and supplementation of 3.5g/day EPA+DHA will increase the anabolic response even further. In the present study both the acute and chronic effects of EPA+DHA versus a placebo on muscle and whole body protein metabolism will be examined. The principal endpoint will be the extent of stimulation of net fractional muscle protein synthesis as this is the principal mechanism by which the effect of EPA+DHA on muscle anabolism can be measured. The endpoint will be assessed by isotope methodology which is thought to be the reference method.
The aim of this project is to establish a network of clinical teams including the major neuromuscular centers in Europe. We plan to work together to find the best common outcome measures for the following multicenter therapeutic trials.
This study is being done to test whether taking testosterone can prevent loss of muscle mass and strength due to anterior cruciate ligament (ACL) reconstructive surgery. Testosterone is the principal male sex hormone and an anabolic (muscle promoting) steroid. It is essential for the development of male reproductive tissues and promotes increased muscle, bone mass, and the growth of body hair. The investigators hope to learn whether testosterone given before and after ACL reconstructive surgery will increase muscle mass and strength and potentially improve recovery time following surgery.
Background: - Spinal muscular atrophy type 1 (SMA 1) causes severe muscle weakness and problems with eating and breathing. The symptoms begin in infancy, and children affected with SMA 1 often die in early childhood. Researchers want to collect information on how SMA symptoms progress in first two years. Objectives: - To study how the symptoms of SMA 1 progress in infants and children. Eligibility: - Infants and children with SMA 1 born on or after January 1, 2007. Design: - Researchers will review the child s medical records and talk with parents by telephone. - For children who are under 2 years of age, the researchers will review the child s medical records and speak with you on telephone every 2-4 months. Phone calls with parents will take about 10 minutes and will involve questions about symptoms of SMA 1. Children will be followed until age 2.- Researchers are also interested in looking at medical records of children who are no longer alive or who are more than 2 years of age. Parents or children do not have to come to the NIH. They will provide consent to view these records, and information over the telephone. - No treatment or care will be provided as part of this study.
This is a safety and tolerability study investigating the effect of HPP593 in healthy volunteers during and after limb immobilization.