View clinical trials related to Muscular Atrophy.
Filter by: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.
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.
This study will use the indicator amino acid oxidation technique (IAAO) to determine protein oxidation of ICU patients at two protein intakes: 1.3 g/kg/d versus 2.0 g/kg/d.
Introduction: Ultrasound can be used to monitor muscle mass during interventional approaches in patients with liver cirrhosis. The aim: To investigate the effect of branched-chain amino acid (BCAA) supplementation and/or muscle exercise on ultrasound-measured quadriceps muscle thickness and echo intensity, as well as on muscle strength, performance, and nutritional assessment in patients with cirrhosis. Patients & Methods: This is a randomized controlled study that included 220 liver cirrhosis patients with Child-Pugh B & C classes. They were randomized into a control group comprising 55 patients who received only the standard care, and interventional groups comprising 165 patients equally distributed into three groups, they received in addition to standard care, BCAA, programmed exercise, or BCAA and programmed exercise respectively. At baseline and after 28 days, all participants were subjected to ultrasound-measured quadriceps muscle thickness and echo intensity, in addition to handgrip strength, short physical performance battery (SPPB), anthropometric measures, hematological and biochemical assessment, MELD score measurement, nutritional assessment using 7- subjective global assessment score (SGA).
The goal of this clinical trial is to compare the quality of mesoangioblasts isolated from various patient groups suffering from muscle atrophy. This study includes cancer cachexia and muscle-impaired elderly and a control group of the same age. The quality will be defined on these following outcomes: - The number and distribution of the mesoangioblasts in a muscle biopsy to define if there are sufficient mesoangioblasts to start a culture. - The proliferation capacity to define if we can culture them the numbers required for systemic treatment. - The myogenic capacity to define if the mesoangioblasts are sufficiently capable to generate muscle fibres. Participants will: - Undergo a muscle biopsy (needle biopsy or rest material from surgery, ~50mg) - Donate blood (~20 ml) - Fill in SARC-F questionnaire (evaluate sarcopenia score) - Fill in SQUASH questionnaire (evaluate physical activity of previous week) Researchers will compare groups (muscle-impaired elderly vs control; cancer cachexia vs control) to see if there is a difference regarding quality. These results will define the potential of autologous mesoangioblast therapy within these groups.
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.
The primary aims of this study are to determine the effect of percussive massage (30 min/session, 2 sessions/day, daily) during 10 days of unilateral limb immobilization on preserving muscle, vascular, and mitochondrial function. The following hypotheses will be tested: Hypothesis 1: Percussive massage will attenuate the loss of size, strength and endurance over the immobilization period compared to the control group, as measured by MRI, maximal isometric and isokinetic force production and muscle endurance test using Biodex dynamometry. Hypothesis 2: Percussive massage will attenuate the loss of vascular function and blood flow compared to the control group as measured by passive leg movement and femoral artery blood flow. Hypothesis 3: Percussive massage will attenuate the loss of skeletal muscle mitochondrial function and decrease H2O2 production during immobilization compared to the control group, as measured by high-resolution respirometry.
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 6 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.
After rehabilitation completion, there remains large deficiencies between the operative (OP) and non-operative (NOP) limbs in lower-limb outcomes (e.g., size, strength, and function) and these deficits can persist for years. Therefore, further specialized training protocols, such as the ones in the present study, are required to determine if these deficits can be lessened. The proposed project will evaluate the effect of 8-weeks of single-leg and double-leg lower-body resistance training on musculoskeletal function in individuals with a previous anterior cruciate ligament (ACL) reconstruction (ACLR) in a randomized control trial. The study will recruit 30-40 males and females between 18-35 years of age that have undergone a previous ACLR. Participants will be randomized to either the single-leg/unilateral (UL) or double-leg/bilateral (BL) training groups. Training will occur three times per week for 8-weeks. The UL group will participate in exercises such as split squats, single-leg deadlifts, or single-leg squats. The BL group will utilize exercises such as double-leg squats, conventional deadlifts, and leg presses. One week prior to (PRE) and one week after (POST) the training program, all participants will undergo a testing battery. Musculoskeletal ultrasound will measure quadriceps and hamstrings muscle cross-sectional area (mCSA), fascicle length (FL), and pennation angle (PA) of both OP and NOP limbs. Strength will be assessed through maximal voluntary isometric contractions (MVIC) for the quadriceps and hamstrings, and one-repetition maximum tests for single-leg leg extensions, leg curls, and leg press. Lower-limb function will be assessed through single-leg and double-leg jumps on a dual force plate system for jump height, impulse, rate of force development, and peak force. Data will be analyzed via separate mixed-factorial analyses of variance for the within-subjects factor of leg (OP vs. NOP) and time (PRE vs. POST) and the between-subjects factor of biological sex (male vs. female) and group (UL vs. BL). Post-hoc analyses will include lower-order ANOVAs and t-tests as pairwise comparisons when significance is detected. Significance will be established at p≤0.05. The results of this study will assist practitioners, coaches, sport scientists, and most importantly, the athletes, in the development of post-rehabilitative strength training protocols designed to reduce between-limb discrepancies.