Active clinical trials for "Muscular Atrophy"

Caregivers face many responsibilities outside of their role as a friend or parent, which can lead to emotional, financial, social, and professional challenges. To better understand the impact of MCT8 deficiency on caregivers, Egetis Therapeutics are conducting an online survey for adult caregivers of persons living with the MCT8 deficiency.

Spinal muscular atrophy (SMA) is an autosomal recessive disease that causes progressive muscle wasting and weakness due to loss of motor neurons in the spinal cord. This is a registered cohort of spinal muscular atrophy (SMA) type I，II and III in China. This study will provide further insights into the clinical course of SMA including overall survival, demographic characteristics, motor function, respiratory support, feeding and nutritional support, growth and development. The correlation of genotype and phenotype will be conducted.

Spinal muscular atrophy is a hereditary motorneuron disease caused by a mutation of the SMN1 gene, which is at the origin of a progressive limb and axial motor deficiency. It concerns 1200 individuals in France, including 700 adults in 2018. The main objective of this study is to assess the quality of life of SMA patients in France. The secondary objectives are, in one hand, to compare the quality of life of SMA patients to a population of neuromuscular diseases patients. And on the other hand to evaluate the determinants of participation and the impact of participation on quality of life in adult SMA patients.

We are the missing link in clinical trials, connecting patients and researchers seamlessly and conveniently using a mobile health platform to advance medical research. We make it easy for patients to contribute to research for medical conditions that matter most to them, regardless of their location or ability to travel.

Parents of children with medical complexity (CMC) are at risk of high stress levels because these CMC have multisystem diseases, including severe neurologic conditions or cancer, resulting in potential premature death. These children experience one or more physical and psychological symptoms simultaneously that can seriously affect their quality of life and increase use of health services. Parents may feel challenged, lacking confidence in their abilities when managing their child's symptoms. Literature suggested that increasing parental self-efficacy in managing their child's symptoms could improve the child's health. Home-based nursing services for the CMC and parents are available in Hong Kong, but the service faces challenges because of serious nursing workforce shortage and the recent coronavirus pandemic. Nurse parental support in symptom management using a proactive mobile health application is an alternative method considered more accessible and nurse-parent interactivity to continue home-based support for the CMC and parents. This proposed randomized controlled trial will test the effects of a mobile App with nurse support for enhancing parental self-efficacy in symptom management for CMC in communities. A repeated-measures, two-group design will be used to evaluate the effects between intervention and wait-listed control groups by comparing the study group receiving nurse parental support in symptom management using a proactive mobile application, and the wait-listed control group receiving usual community care for 120 randomly selected parents over a three-month follow-up. Primary outcome is parental self-efficacy. Secondary outcomes include children's symptom burden and health services utilization. These factors will be measured before intervention, immediately after intervention and three-month after intervention. The effectiveness of the intervention will be evaluated by comparing the primary outcome (parental self-efficacy) at three-month after intervention across the two study groups using ANCOVA with control for the pre-test value of parental self-efficacy (primary objective). Generalized estimating equation will be used to address secondary objectives regarding the effectiveness of the mobile App as compared to the control on secondary outcomes (parental self-efficacy, children's symptom burden, and health service utilization) from T1 to T3 with appropriate link function. It is hypothesized that nurse support using the mobile App is more effective than usual community care in enhancing parental self-efficacy in symptom management for their CMC at three-month after intervention.

The aim of the study is to measure and compare acute systemic irisin, myostatin and decorin levels after a single session of blood flow restricted resistance exercise and resistance exercise without blood flow restriction in healthy, trained male participants aged 18-35 years. For this purpose, a total of 22 people will be included in the study. Participants will be randomly allocated to 2 exercise groups as resistance exercise with blood flow restriction (BFR-RE) and resistance exercise without blood flow restriction (HL-RE) and will be subjected to cross-over. In the HL-RE intervention, the exercise will be performed with a loading of 80% of 1 RM, with 4 sets x 7 repetitions, with 60 seconds of rest between sets. In the BFR-RE intervention, the exercise will be done as a set of 30 repetitions with a loading of 30% of 1 RM and an additional 3 sets x 15 repetitions, with 30 seconds rest between sets. Total exercise volumes were tried to be equalized and skeletal muscle hypertrophy was selected in accordance with exercise guidelines. In both groups, bilateral leg extension exercise will be performed using the leg extension machine for resistance exercise. In the blood flow restriction group (BFR-RE), the cuff will be placed in the proximal region of the thigh bilaterally, inflated to a pressure equivalent to 50% of the estimated arterial occlusion pressure (AOP), and leg extension exercise will be performed under this condition. In the BFR-RE group, the blood flow restriction time will be between 5-10 minutes. Exercise sessions will be conducted under supervision. Venous blood samples will be collected from the arm antecubital region of the participants just before the exercise session, immediately after the exercise, and 1 hour after the exercise. Plasma irisin, myostatin and decorin levels will be measured from the samples taken. It is well known that resistance exercise is important in maintaining and increasing muscle mass (hypertrophy). Studies have shown the involvement of certain myokines in skeletal muscle hypertrophy, although few studies have been conducted on the systemic response of myokines to BFR-RE that may play a potential role in hypertrophy. Therefore, the planned study aimed to reveal the similarities or differences in the systemic myokine response between BFR-RE and HL-RE.

This trial will evaluate the impact of 6 weeks of postoperative essential amino acid (EAA)-based supplementation on muscle morphology after femoral fragility fracture. This trial will assess the ability of EAA-based to increase skeletal muscle metabolic activity, reduce inflammation, and induce muscle fiber hypertrophy, as well as preserve skeletal muscle mass and physical performance up to 3 months after injury. Participants will be randomized in a 1:1 ratio to 1) standard of care (no dietary intervention) or 2) EAA-based supplementation

There is no complete cure for SMA yet. However, the discovery of the genetic cause of SMA has led to the development of several treatment options that affect the genes involved in SMA - a gene replacement therapy called Zolgensma, and two drugs, called Nusinersen (Spinraza) and Risdiplam (Evyrsdi). In this context, the evaluation of efficacy and the long term follow-up of patients treated with these innovative treatments in clinical routine is one of the critical points. These evaluations are carried out in a medical context (clinical sites or research unit) using validated measurement tools and outcome measures. Carrying out these evaluations in a controlled environment can be considered from certain aspects as an advantage (reproducibility of measures, neutral environment, etc.), but also raises a certain number of questions regarding the impact on patients, the financial cost, or the relevance of the data obtained in an unnatural environment (stress, fatigue, patient motivation…). Also the regulatory authorities ask for longitudinal data for deciding to reimburse these expensive treatments. As such, the hospital cannot digest all these evaluations due to a lack of resources.

Objective: The aim of this study is to investigate the effect of motor imagery on muscle activity, pain, and function in arthroscopic rotator cuff repair. Methods: As a result of the power analysis (G-Power), 36 participants are planned to be included in this study Block randomization will be used to divide participants into 2 groups, each with at least 18 participants: Group 1 (MI group) and Group 2 (Control group) (Randomizer.org). Both groups will receive a 4-week physical therapy program. MI (Motor Imagination) group will receive a motor imagination program in addition to the physical therapy program. Data will collect using the visual analog scale (VAS), goniometric measurement, circumference measurement, Disabilities of the Arm, Shoulder, and Hand Questionnaire (DASH), Kinesthetic and Visual Imagery Questionnaire- KVIQ-20, Tampa Kinesiophobia Scale, 3-question satisfaction questionnaire, superficial Electromyography (EMG) (BTS Bioengineering Free EMG 100 RT). Practice Implications: The current study will contribute to understanding how motor imagination affects muscle activity and muscle atrophy.

Several factors make the use of celecoxib in human SMA patients appealing including: 1) low-dosing required for potential therapeutic effect (the corresponding dose in humans is much lower than that commonly used in adults and children with; 2) favourable side effect profile of this drug (particularly at the dosing required); 3) the fact that celecoxib crosses the blood brain barrier and 4) demonstration of efficacy in a genetically and pathophysiologically faithful animal mode. The investigators therefore believe that celecoxib is a promising disease modifying therapy for SMA.