View clinical trials related to Muscular Atrophy.
Filter by:This is a multi-center, open-label, non-randomized, parallel-group, 2-part study to evaluate the effect of hepatic impairment on the PK and safety and tolerability of a single oral dose of risdiplam compared to matched healthy participants with normal hepatic function.
Observational study of adult patients with spinal muscular atrophy types 2 and 3 receiving nusinersen
This is a Phase 3, open-label, single-arm, single-dose, trial of onasemnogene abeparvovec-xioi (gene replacement therapy) in participants with spinal muscular atrophy (SMA) Type 1 and who are genetically defined by a biallelic pathogenic mutation of the survival motor neuron 1 gene (SMN1) with one or two copies of survival motor neuron 2 gene (SMN2). The primary objective of the study is to evaluate the efficacy of onasemnogene abeparvovec-xioi by assessing the proportion of symptomatic SMA Type 1 participants who achieve the ability to sit unaided for at least 10 seconds up to and including the 18 months of age trial visit. At least 6 participants aged < 6 months (< 180 days) at the time of gene replacement therapy (Day 1) will be enrolled.
The purpose of this study is to investigate the measurement properties of the Ability Captured Through Interactive Video Evaluation-mini (ACTIVE-mini) for quantifying movement in infants with Spinal Muscular Atrophy (SMA). Specifically, I will investigate within-day and between-day test-retest reliability and calculate the minimal detectable change of the ACTIVE-mini. Additionally, I will determine the concurrent validity of the ACTIVE-mini with The Children's Hospital of Philadelphia Infant Test for Neuromuscular Disease (CHOP INTEND) and the construct validity of the ACTIVE-mini in infants with SMA using a known group methodology.
The effect of different protein intakes on skeletal muscle atrophy during short term unilateral leg immobilisation.
A two-period, two-treatment, crossover study to evaluate the safety, tolerability and efficacy of amifampridine phosphate in ambulatory patients diagnosed with spinal muscular atrophy (SMA) Type 3.
Muscle wasting is a common consequence of critical illness, and has a profound impact upon the rehabilitation of those who survive admission to critical to care. The investigators intend to assess if the application of 10 sessions over two weeks of passive cycling with electrical stimulation to the lower limbs and abdomen can prevent muscle loss, or at least cause less muscle loss, compared to patients who receive standard daily sessions of physiotherapy. This will be done by comparing the changes in muscle size on ultrasound between the two groups, comparing functional measures at a 3 month follow up, and by performing translational research using tissue samples taken during the study.
Ageing is associated with a gradual decline in muscle mass that is detrimental to both physical function and metabolic health, increasing the risk of morbidity and mortality. The loss of protein muscle mass with ageing is poorly understood, but it may partly relate to inactivity/disuse (i.e. during injury or hospitalization). Periods of inactivity/disuse blunt the ability of muscle to grow (termed anabolic blunting), leading to a loss of muscle mass and strength. An accumulation of these periods over a lifetime promotes the devastating loss of muscle protein mass and strength seen with ageing. Disuse-induced muscle loss is underpinned by a blunted muscle anabolic response to protein nutrition. Supplementing the diet with the amino acid leucine may offer a potential solution to alleviate muscle mass and strength loss during disuse. In fact, leucine is suggested to promote muscle protein growth and reduce muscle protein loss during disuse in rats, but this is yet to be shown in humans. Accordingly, the proposed study will investigate whether leucine supplementation can offset muscle and strength loss during short-term disuse. Twenty-four healthy (non-obese, non-diabetic, non-smokers) men aged 18-35 years will initially complete a lower-limb strength assessment and undergo a body composition scan three days later. The following morning, participants will be randomly assigned to ingest either 5g of leucine (n=12) or a caloric-matched placebo (n=12) with each meal over a 7 d period of a single-leg immobilisation. Immediately following immobilisation participants will undergo another body composition scan. Additionally, a stable isotope infusion will be combined with serial muscle biopsies from the thigh of each leg to determine the measure rates of muscle protein synthesis in the fasted state and in the 'early' and 'late' phase of feeding. A day later, the assessment of muscle strength will be repeated.
This study aims to determine changes in kidney function during and after critical illness, comparing conventional creatinine based methods with the gold standard to accurately establish the presence of new or worsened chronic kidney disease. In addition, investigators will assess the confounding effect of muscle wasting on the conventional assessment of kidney function and investigate the information that measures of kidney function may contribute to the assessment of musculoskeletal health after critical illness.
Hypothesis: There exists patients who have met ALS or PMA diagnostic criteria and subsequently experienced robust and sustained improvement, i.e. a "reversal." Thirty-eight of these patients were identified in the prior Duke University study, Documentation of Known ALS Reversals (St.A.R. Protocol 1, Duke IRB Pro00076395). The investigators hypothesize these patients have had different environmental exposures than patients with typically progressive ALS. Identification of specific environmental influences may point to exposures which are protective or exposure that lead to the development of a rare and novel reversible ALS-like disease. Objective: This study seeks to identify environmental exposures associated with ALS reversals.