View clinical trials related to Muscular Atrophy.
Filter by:The study aims to explore whether a high level of AGEs (Advanced Glycation end products) derived from the diet may mediate diet-related muscle loss in Western-type diet, influencing the onset and progression of sarcopenia, predisposing to earlier and more severe metabolic consequences, including type 2 diabetes (T2D). The primary objective of the study is to investigate how the accumulation of AGEs is correlated with muscle loss in adult patients with obesity and type 2 diabetes or lipodystrophy in order to identify possible targets to mitigate the metabolic alterations caused by the Western diet (WD). Specifically, circulating AGEs levels on the skin will be evaluated and correlated with the stage of sarcopenia in a group of patients with obesity and a T2D diagnosis. Furthermore, the relationship between disease duration and AGE levels will be assessed. A secondary objective will be to analyze the clinical data obtained to identify metabolites and metabolic pathways responsible for the phenotype induced by the WD. The ultimate aim of the study is therefore to verify whether high levels of AGEs are correlated with an early and/or more pronounced onset of sarcopenia, concurrently with an increase in inflammation and oxidative stress.
People living with Rheumatoid Arthritis (RA) often present with low muscle mass compared to their healthy counterparts. This affects their mobility, overall health and quality of life. Even though low muscle mass in RA has been recognised for decades, it is still highly prevalent and very little is known about its development, progression, and potential management. The researchers hypothesise that flares of disease activity trigger acute events of muscle wasting due to high inflammation and reduced mobility. This is commonly observed in bed rest studies and people hospitalised for various reasons. If this holds true for RA, it would point towards a stepwise development of RC and potentially allow for time-targeted management of it. A potential method to manage it is through the use of nutritional supplements. Specifically, amino acid supplementation (commonly used by athletes or people wanting to increase muscle mass) during and shortly after a flare may counteract some of the muscle wasting and allow for better long-term mobility and quality of life for people living with RA. This study aims to investigate aspects of muscle health changes following a disease flare-up in people with Rheumatoid Arthritis (RA) and test potential interventions to minimise any such changes. The investigators will randomly assign participants to a standard care or a nutritional supplementation group and assess aspects of body composition, muscle health, disease activity and inflammation on five occasions over a 3-month period.
We aim to conduct a randomized registry-based waitlist-controlled trial (RCT) with 22 youth with Spinal Muscular Atrophy (SMA) aged 8-18 years to determine if Tales from the Magic Keep is more effective than usual care for improving occupational performance and satisfaction. This clinical trial is embedded in INFORM RARE, an innovative clinical trials network funded by the Canadian Institutes of Health Research (CIHR) Strategy for Patient-Oriented Research (SPOR), co-designed by patients and families, healthcare providers, policymakers, methodologists, and research ethicists (https://www.informrare.ca/). INFORM RARE addresses a recognized need for innovation in treatable pediatric rare diseases to facilitate timely and robust evidence generation in support of knowledge user decision-making. Finally, the study is co-designed by adolescents with SMA and their families, healthcare providers, policymakers, and methodologists, incorporating the SPOR guiding principles of patient engagement at all levels of research.
With the advent of new treatments for ASI, new phenotypes are emerging. The investigators propose to describe these new phenotypes by prospectively following children with ASI of all types treated with TRS and aged under 16 for 2 years. The investigators also propose to evaluate potential assessment tools to determine whether they are relevant for monitoring this population, either routinely or for future clinical trials. The investigators also aim to collect the total costs associated with ASI in order to propose a first prospective medico-economic study in France.
This is a single-session, case-control study that incorporates digital tools for assessing speech and motor function in motor neuron disease. Patients with motor neuron disease (including amyotrophic lateral sclerosis (ALS), primary lateral sclerosis (PLS), and progressive muscular atrophy (PMA)) and age-matched healthy controls will be enrolled. Subjects will complete a speech and handwriting assessment during the study visit on a tablet computer (BioSensics LLC, Newton, MA). We will explore whether these digital biomarkers are sensitive to functional disease severity as reported by the ALS Functional Rating Scale - Revised (ALFRS-R) [1]. We will also compare assessment data between the patient and control groups.
Spinal cord stimulation (SCS) has shown remarkable efficacy in restoring motor function in people with spinal cord injury by recruiting afferent input to enhance the responsiveness of spared neural circuits to residual cortical inputs. This pilot will test if SCS can show evidence to improve motor deficits in people with Type 2, 3, or 4 spinal muscular atrophy (SMA). The investigators will enroll up to six subjects with Type 2, 3, or 4 SMA aged 16 or older that show quantifiable motor deficits of the upper body. The investigators will then implant the subjects with percutaneous, linear spinal leads near the cervical spinal cord for a period of up to 29 days. Although these leads are not optimized for motor function but rather for their clinically approved indication of treating pain, the investigators believe they provide a safe technology enabling our team to perform scientific measurement necessary to evaluate potential for effects of SCS in motor paralysis with SMA. After the end of the study, the leads will be explanted.
This is an interventional study to evaluate safety and efficacy of AAV-hSMN1 in spinal muscular atrophy patients.
A hallmark of aging is an impaired ability to adequately recover following a stressor, such as muscle disuse, resulting in muscle fibrosis and weakness thereby increasing the risk for falls and loss of independence. Mechanistic-based therapeutic strategies to enhance muscle recovery in older adults do not exist. Metformin has been implicated to have positive effects on muscle size and function through non-glycemic mechanisms. Metformin has been shown to enhance macrophage function and lessen cellular senescence burden by targeting SASP in a variety of muscle interstitial cells. However, the role of metformin to improve muscle recovery in older adults following disuse atrophy through immunomodulating and senomorphic mechanisms have not been examined. Therefore, the purpose of this study is to conduct a randomized, double blind, placebo-controlled clinical trial in older adult participants to determine if short-term metformin delivery (vs placebo) during the recovery phase following disuse atrophy can improve muscle regrowth.
Spinal muscular atrophy (SMA) is a genetic neurodegenerative disease impacting spinal cord motor neurons, leading to motor and respiratory issues and, ultimately, death. With emerging therapies, a need arises to enhance motor function assessment in severely hypotonic infants (SMA type 1) as traditional scales on examination tables lack completeness due to gravity's influence. The study team has developed a "bath test" to observe infants' motor skills in water, eliminating gravity's effects. This test aims to detect subtle movements using inertial sensors, potentially revealing more active motor neurons in aquatic conditions. It aids in identifying infants with motor improvement potential, even if they show limited mobility outside water, and tracks disease progression and therapy responses. Presently, pediatric neurologists in France use parent-provided bathing videos for evaluations, but these lack standardization and precision. The study aims to establish a standardized evaluation protocol with quantifiable data. The study's key objective is to evaluate severely hypotonic SMA infants using inertial sensors, including accelerometers, gyrometers, and magnetometers. The study will conduct "dry" and "water" assessments using a specially designed bathtub. This method's goal is to quantify water-based movements accurately. Simultaneously, the study seeks to establish semi-quantitative evaluation criteria to create a clinical assessment scale for infant motor function in bathtubs. This scale will aid doctors in therapeutic decisions. The study will not influence the treatment or therapeutic decisions made for the children being tested. Collected data from "dry" and "water" conditions will be statistically analyzed and compared to reference motor assessment scales (e.g., CHOP INTEND and HINE) and electromyography (CMAP-EMG) results, commonly used in diagnosis and monitoring. Blurred video recordings will assist in protocol monitoring and sensor data analysis.
Cell-free fetal DNA (cffDNA) is present in the maternal blood from the early first trimester of gestation and makes up 5%-20% of the total circulating cell-free DNA (cfDNA) in maternal plasma. Its presence in maternal plasma has allowed development of noninvasive prenatal diagnosis for single-gene disorders (SGD-NIPD). This can be performed from 9 weeks of amenorrhea and offers an early, safe and accurate definitive diagnosis without the miscarriage risk associated with invasive procedures. One of the major difficulties is distinguishing fetal genotype in the high background of maternal cfDNA, which leads to several technical and analytical challenges. Besides, unlike noninvasive prenatal testing for aneuploidy, NIPD for monogenic diseases represent a smaller market opportunity, and many cases must be provided on a bespoke, patient- or disease-specific basis. As a result, implementation of SGD-NIPD remained sparse, with most testing being delivered in a research setting. The present project aims to take advantage of the unique French collaborative network to make SGD-NIPD possible for theoretically any monogenic disorder and any family.