View clinical trials related to Muscular Atrophy.
Filter by:This study aims to measure the spinal cord gray matter in patients with spinal muscular atrophy (SMA) type II and III in comparison with age- and sex-matched healthy controls (HC) using rAMIRA (radially sampled averaged magnetization inversion recovery acquisitions) imaging, a novel MRI (Magnetic Resonance Imaging) method. Patient and HC undergo MRI examinations, clinical/neurological (handheld dynamometry) and electrophysiological investigations (MUNIX, Motor Unit Number Index). Serum markers of neuro-axonal and astrocytic injury are also assessed.
The aim of the investigator's study was to investigate translating the PedsQL 3.0 Neuromuscular Module for 2-to 4- Year-old and using it in clinics reliably and validity with a Turkish version of the PedsQL Generic Core (Pediatric Quality of Life Questionnare) in children with Spinal Muscular Atrophy in Turkey
The primary aim of the study was to measure the intra-rater and inter-rater reliability of MyotonPRO in measuring postural muscle tone and mechanical properties in individuals with spinal muscular atrophy (SMA). The secondary aim is to question the existence of a relationship between the functional levels of individuals with SMA and their muscle tone and biomechanical properties. It is assumed that the outputs to be obtained from this research will form the norm data for moyotonometer evaluation in children with SMA.
The primary objective of this study is to evaluate the long-term safety and tolerability of nusinersen administered intrathecally at higher doses to participants with spinal muscular atrophy (SMA) who previously participated in study 232SM203 (NCT04089566). The secondary objective of this study is to evaluate the long-term efficacy of nusinersen administered intrathecally at higher doses to participants with SMA who previously participated in study 232SM203 (NCT04089566).
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.
The loss of muscle mass post-surgery confounds recovery efforts and leads to a delay in patient's ability to return to activities. Although the use of testosterone in aging and chronic muscle loss has been investigated, this study could prove short-term use of testosterone efficacious in preventing muscle atrophy due to surgery. We hypothesize that by bracketing an indexed knee surgery with testosterone undecanoate injections, post-surgical quadriceps muscle loss may be minimized. Determination of the effect of intra-muscular (IM) testosterone injections in preventing quadriceps muscle loss are measured by serial MRI and manual measurements of quadriceps cross-section.
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and families who screen positive, and 3) evaluate the Early Check program. The Early Check screening will lead to earlier identification of newborns with rare health conditions in addition to providing important data on the implementation of this model program. Early diagnosis may result in health and development benefits for the newborns. Infants who have newborn screening in North Carolina will be eligible to participate, equating to over 120,000 eligible infants a year. Over 95% of participants are expected to screen negative. Newborns who screen positive and their parents are invited to additional research activities and services. Parents can enroll eligible newborns on the Early Check electronic Research Portal. Screening tests are conducted on residual blood from existing newborn screening dried blood spots. Confirmatory testing is provided free-of-charge for infants who screen positive, and carrier testing is provided to mothers of infants with fragile X. Affected newborns have a physical and developmental evaluation. Their parents have genetic counseling and are invited to participate in surveys and interviews. Ongoing evaluation of the program includes additional parent interviews.
The goals of this study are: (1) to better understand the relationship between the phenotype and genotype of amyotrophic lateral sclerosis (ALS) and related diseases, including primary lateral sclerosis (PLS), hereditary spastic paraplegia (HSP), progressive muscular atrophy (PMA), and frontotemporal dementia (FTD); and (2) to develop biomarkers that might be useful in aiding therapy development for this group of disorders.
The investigators laboratory has been studying families with a history of ALS for more than 30 years and is continuing to use new ways to understand how genes may play a role in ALS, motor neuron disease and other neuromuscular disorders. The purpose of this study is to identify additional genes that may cause or put a person at risk for either familial ALS (meaning 2 or more people in a family who have had ALS), sporadic ALS, or other forms of motor neuron disease in the hopes of improving diagnosis and treatment. As new genes are found that may be linked to ALS in families or individuals, the investigators can then further study how that gene may be contributing to the disease by studying it down to the protein and molecular level. This includes all forms of ALS, motor neuron disease and ALS with fronto-temporal dementia(ALS/FTD). We also continue to study other forms of neuromuscular disease such as Miyoshi myopathy, FSH dystrophy and other forms of muscular dystrophy by looking at the genes that may be associated with them. There have been a number of genes identified that are associated with both familial and sporadic ALS, with the SOD1, C9orf72, and FUS genes explaining the majority of the cases. However, for about 25% of families with FALS, the gene(s) are still unknown. The investigators also will continue to work with families already identified to carry one of the known genes associated with ALS.