Active clinical trials for "Muscular Atrophy"

Aim of the present study is to determine whether muscle mass as assessed by bioelectrical impedance analysis correlates with and corresponds to muscle mass as assessed by CT scan analysis in critically patients admitted to the intensive care unit.

Creation of a large repository of induced pluripotent stem cells (iPSC), bio-fluid samples (blood and spinal fluid (optional)), and cell lines for ALS gene identification. This will be combined carefully with collected measures of the pattern of the symptoms people with ALS have and how these change over time. People with other motor neuron diseases and healthy controls will be included as comparisons

In this single center study blood samples for biomarker analysis will be collected from patients with spinal muscular atrophy. Up to 21 mL blood will be drawn from eligible patients at a single visit.

To test if the routine newborn screening dried blood spots can be used to test if missing 2 copies of SMN1 gene, a status indicating spinal muscular atrophy

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

SPOT SMA is a prospective NIH-supported clinical study targeting pre-symptomatic or recently diagnosed infants and children with Spinal Muscular Atrophy (SMA) types 1, 2, or 3 and their healthy control siblings less than 36 months of age at the time of study enrollment. The main objective of the study is to prospectively collect longitudinal clinical outcomes and provide counseling and education to parents of newly diagnosed children. The study will assess the impact of current standard of care management paradigms and interventions on health outcomes in newly diagnosed SMA infants and children with type 1, 2 or 3 and age appropriate controls. There is no investigational drug and no specific intervention in this study. Rather, the investigators will document outcomes related to current therapies provided to participating subjects, and will educate participants about possible clinical trial opportunities.

Atrogin-1 and muscle RING finger-1 are skeletal muscle specific genes, with ubiquitin ligase activities, that are upregulated during muscle atrophy in mice. The Akt/GSK3 and Akt/mTOR pathways are involved in muscle hypertrophy in mice. Recent studies by the investigators team and others have demonstrated the implication of these signalling pathways in the control of muscle mass in humans. However no study has yet investigated the involvement of these systems in the early stages of spinal cord injury induced human skeletal muscle atrophy. The investigators propose to investigate the level of expression of the different components of the ubiquitin-proteasome system together with the level of expression and activity of the Akt/mTOR and Akt/GSK3 signalling pathways after SCI in humans during the first months following the injury. A second aim of this project is to assess if a novel apparatus of electrical stimulation which generate movements by closed-loop electrical muscle stimulation may improve strength and muscle mass in these patients. The patients will be recruited jointly at the Clinique Romande de Réadaptation (CRR) in Sion and the Swiss paraplegic centre in Nottwil. They will be randomly divided into two groups, a first group of patients will undergo a conventional treatment of rehabilitation while a second set of patients will be treated using a brand new system of electro-stimulation called MotionMaker TM. Biopsies will be obtained in the first weeks after admission; two other biopsies will be taken respectively 3 and 6 months post-lesion. Our results will provide an increased understanding of the molecular mechanisms contributing to skeletal muscle atrophy during the early stages following SCI and a characterization of the impact of endurance training in the no more voluntary innervated muscle. Moreover this study will also investigate the potential improvement in the rehabilitation process by using a new system of electro-stimulation.

In this project, we will establish the efficient and accurate gene dose determination system by combining the heterodulex analysis and gene dose analysis on DHPLC platform based on various quantitative and multiplex PCR strategies and applying on detecting the carriers- in- risk and patients with spinal muscular atrophy.This method is, therefore, based on the observation that the amount of PCR product generated from each site of amplification is proportional to the amount of starting template. Detection of PCR products is carried out on DHPLC, which provide the sensitivity required for the detection of the single-copy dosage changes.

The risk of muscle wasting, and sarcopenia is high in the intensive care unit patients and associated with adverse clinical outcomes. The etiology of muscle wasting is multifactorial and medical nutrition therapy plays a key role in treatment and prevention. The purpose of this study is to evaluate the effect of omega-3 fatty acids in the treatment and/or prevention of muscle wasting in critically ill trauma patients.

This study will examine the influence of n3 PUFA supplementation on the rate of muscle atrophy in older women undergoing 1 week of unilateral limb immobilization. Assessments in skeletal muscle strength and skeletal muscle volume will also me made before, after and in recovery from immobilization.