View clinical trials related to Atrophy.
Filter by:Spinal muscular atrophy (SMA) is a neurogenetic disorder caused by a loss or mutation in the survival motor neuron 1 gene (SMN1) on chromosome 5q13, which leads to reduced SMN protein levels and a selective dysfunction of motor neurons. SMA is an autosomal recessive, early childhood disease with an incidence of 1:10,000 live births. SMA is the leading cause of infant mortality due to genetic diseases. Until recently, the mainstay of treatment for these patients was supportive medical care. However, advances in medical treatment focusing on gene replacement, gene enhancement, motor neuron protection and muscle enhancement is likely to change the management and prognosis of these patients in the future. The purpose of this registry is to assess the long term outcomes of patients with SMA in the context of advances in treatment options.
The primary objectives are to evaluate the safety and tolerability of multiple doses of ION464 administered via intrathecal (IT) injection (Part 1) and to evaluate the long-term safety and tolerability of ION464 (Part 2) in participants with multiple system atrophy (MSA). The secondary objectives are to evaluate the pharmacodynamic (PD) effect of ION464 on the level of a potential biomarker of target engagement (Parts 1 and 2) and to evaluate the pharmacokinetic (PK) profile of ION464 in serum (Part 1).
Pilot, interventional, randomized of parallel groups and multicenter clinical trial.
This is a prospective, multicenter, randomized, double-blind, placebo-controlled, dose-de-escalation study whose purpose is to establish the lowest efficacious dose. The first 40 subjects will be randomized 1:1:1:1 to either 500 mcg, 50 mcg, 10 mcg, or placebo. After four weeks of dosing with 500 mcg, vaginal pH, vaginal maturation index, and subject's most bothersome moderate to severe symptom will be assessed; the changes observed will be used as the benchmark for efficacy throughout the remainder of the study and select the next dose-level to be investigated. Subjects will be enrolled in small cohorts at various doses until the lowest effective dose is identified. Then, 1 to 2 doses and a placebo group will be expanded to enroll 70 subjects per treatment group.
This project is a 2-phase, randomized clinical trial that includes 7 days of unilateral leg disuse (Phase 1), immediately followed by 14 days of bilateral leg rehabilitation (Phase 2). The investigators will recruit cohorts of healthy middle-aged men and women to address their aims: - Demonstrate the sex-specific effects of skeletal muscle disuse (Phase 1) - Identify key molecular determinates of susceptibility of skeletal muscle atrophy (Phase 1) - Map the early, sex-specific molecular time-course of rehabilitation (Phase 2) - Determine if disused and healthy muscle respond similarly to exercise (Phase 2) Healthy, middle-age men and post-menopausal women (50-65 years) will be recruited from the greater Houston/Galveston area. This under-represented research demographic demonstrate few negative metabolic or phenotypic signs of advanced age, but are at increased risk of being hospitalized and experiencing accelerated loss of lean mass and muscle function that parallels a much older population. The goal of this study is to characterize phenotypic and molecular skeletal muscle changes in middle-aged men and women during critical periods of disuse and rehabilitation and ultimately direct the development of targeted and effective prevention and treatment strategies.
Patients with Alzheimer's disease and with early onset of symptoms (<65 years) (AD-Y) have a multi-domain cognitive deficit, whereas memory disorders (typical of the elderly patient's AD) are less often in the foreground. In addition, some MA-J have an atypical phenotype indicating focal brain damage, although they have the same pathological lesions: amyloid deposits and tau protein deposition (DNF). This is the case of posterior cortical atrophy (PCA) characterized by complex visual disturbances and atrophy affecting the more posterior regions of the brain. Based on the clinical profile of PCA patients, a more refined anatomo-clinical classification was proposed, distinguishing a rather "ventral" form and a rather "dorsal" form. The recent arrival of tau-specific PET tracers now makes it possible to evaluate in vivo fibrillary neurodegeneration (FND), which is well correlated with the severity of cognitive disorders. Advances in MRI have shown that each neurodegenerative syndrome targets a large-scale neural network, which in turn shows a vulnerability for a specific biological disease. In the case of AD, the reason for such a difference in cognitive and anatomical impairment between patients with diffuse involvement and others with more focal involvement is not known. One possible explanation is the existence, in focal forms, of neuronal mechanisms that oppose vulnerability. These mechanisms may correspond to the so-called "resilience" phenomenon, defined as resistance to a neuropathological process by the ability to optimize cognitive performance via the efficient recruitment of neural networks. The mechanisms underlying resilience in neurodegeneration are unknown. Their identification is very important for the management and treatment of AD.
The investigation will be conducted as a double blinded, randomized, crossover within-participant comparison design with two 1-week intervention periods separated by 2-weeks for wash out, recovery, period.
DESIRIAL® PLUS is a CE-marketed hyaluronic acid (since 2011) whose registered indications are moderate hypotrophy, severe hypotrophy or atrophy of the vulvar Labia Majora by subcutaneous injections. The aim is to restore volume, rehydrate and add tone and tension to connective tissue areas by filling. In this study, 71 female subjects above or equal to 18 years old at inclusion, who have moderate hypotrophy or severe hypotrophy or atrophy of the vulvar Labia Majora (according to investigator's judgement), who have given her informed consent and meet all the eligibility criteria, will be enrolled. Subjects will come to a total of 6 visits over a period of 12 months. An optional screening visit may be done before injection (additional visit). Proportion of patients having an improved perception of aesthetics (GAIS score after mirror self-examination) after baseline injection will be assessed. Global Aesthetic Improvement, Sexual function, subject's satisfaction, subject's symptoms, pain at injection and safety will be also assessed.
The primary objective of this research protocol is to study and follow the course of motor neuron loss in individuals with spinal muscular atrophy (SMA) using the electrophysiological technique of motor unit number estimation (MUNE). This study is based on the hypothesis that the electrophysiological technique of motor unit number estimation (MUNE) and compound muscle action potential (CMAP) provide sensitive indicators to assess the severity and progression of disease in adults with SMA.
The purpose of this study is to determine whether massage can attenuate the loss of muscle mass in humans after a short period of disuse.