View clinical trials related to Muscular Atrophy, Spinal.
Filter by:The purpose of this trial is to evaluate safety and efficacy of intravenous delivery of EXG001-307 as a treatment of spinal muscular atrophy Type 1 (SMN1).
The group of children diagnosed with Spinal Muscular Atrophy (SMA) has serious restrictions on participation. SMA is a neuromuscular disease that leads to neuromusculoskeletal disorders that limit functional activities, sometimes making it impossible to sit down autonomously and to walk. Scientific evidence has highlighted the importance of implementing physiotherapy interventions in pediatrics that facilitate the integration and participation of children with reduced mobility in their natural environment through the use of different assisted mobility devices that allow the child to acquire a degree of independence and motivation according to their potential and needs. For some time, with the aim of offering independent movement opportunities for children with severe motor impairment, adapted electric cars have been used, as they are simple to use and easy for the child and family to incorporate into daily tasks within natural environments. These low-cost motorized devices can generate a very positive impact on the participation of children diagnosed with SMA type I from an early age, after training the family and/or the child himself, guaranteeing the maximum possible safety, comfort, motivation and autonomy. Due to the above, there is a need to carry out the research project defined below, to generate opportunities for the inclusion of children diagnosed with SMA type I through the use of low-cost electric cars that encourage their participation, motivation and quality of life.
The primary objective of the study is to evaluate the safety and tolerability of single ascending dose of BIIB115 administered via intrathecal (IT) bolus injection to healthy male participants in Part A and multiple ascending doses of BIIB115 administered via IT bolus injection to pediatric Spinal Muscular Atrophy (SMA) participants previously treated with onasemnogene abeparvovec in Part B. The secondary objective of the study is to evaluate the pharmacokinetics (PK) of single-dose of BIIB115 administered via IT bolus injection to healthy male participants in Part A and multiple ascending doses of BIIB115 administered via IT bolus injection to pediatric SMA participants who previously received onasemnogene abeparvovec in Part B.
In the last 10-15 years, a better understanding of the pathophysiology and molecular genetics of SMA has led to the emergence of previously unavailable pharmacological and genetic treatments.One of these new treatments, Nusinersen, targets SMN2, which is a slightly different copy of SMN1, and increases SMN protein levels. Preclinical studies have provided evidence that neuroprotection is strongly formed, with exercise significantly increasing motor neuron survival independent of SMN expression. In a limited number of clinical studies prior to Nusinersen treatment, it was reported that aerobic exercise training improved maximum oxygen uptake (VO2 max) without causing muscle damage, but still caused fatigue. The aim of this study is to determine the effect of aerobic exercise training on motor and respiratory functions, exercise capacity, fatigue and quality of life in SMA Type III patients who can walk and receive Nusinersen therapy. Twenty cases aged 10-50 years with genetically confirmed SMA diagnosis will be included in this study. The cases to be included in the study will be randomized into 2 groups as the training and control groups. In addition to the routine physiotherapy program, medium-intensity Aerobic Exercise Training will be given to the study group for 12 weeks. Before and 12 weeks after the training, the cases will be evaluated with the Six Minute Walking Test, Submaximal Exercise Test, SMN protein level, function and strength assessments, (FVC) value, fatigue and quality of life scales. In clinical trials, the supporting evidence for aerobic interventions in SMA is limited. Additional studies on aerobic intervention parameters (frequency, intensity and duration) are needed.The results of this study will determine the feasibility of aerobic exercise training and provide important guidance for the clinical management of SMA patients.
This study will focus on the pathophysiological underpinnings of reduced exercise capacity and fatigue in ambulatory patients with spinal muscular atrophy (SMA). There has been laboratory evidence to suggest that the molecular mechanisms underlying mitochondrial biogenesis may be vulnerable to survival motor neuron (SMN) protein deficiency. This is an observational, single visit study including 34 ambulatory SMA patients treated with SMN repletion therapies (risdiplam or nusinersen) for at least 6 months at enrollment.
Spinal muscular atrophy (SMA) is a rare, treatable, genetic disease that typically occurs in infancy and early childhood. SMA progressively, and irreversibly, destroys motor neurons in the brainstem and spinal cord, which control movement, in turn leading to deterioration or loss of muscle strength. This can begin during the first 3 months of a child's life, and in those with the most common and severe type of SMA, 95% of all motor neurons can be lost before the age of 6 months. The majority of children with this type of SMA, if untreated, will not survive beyond 2 years of age without permanent ventilatory support. Of those who do, many will not achieve independent sitting and few walk independently. A challenging aspect of treating SMA is the delay in its diagnosis, usually after disease onset. Diagnosis usually occurs when the affected child presents clinical symptoms, by which point a significant portion of their motor neurons will have been irreversibly lost. In contrast, infants and children with SMA who are identified and treated at an early stage, especially those treated pre-symptomatically, show much better motor development. Given that SMA is caused by deletions or mutations in the survival motor neuron 1 gene (SMN1), it can be detected via genetic testing before a child presents with clinical symptoms. This lends itself to newborn genetic screening, through which pre-symptomatic diagnosis of SMA can be made as early as possible, providing the opportunity for substantially enhanced therapeutic effects and outcomes. The aim and objective of this screening study is to assess the uptake, reliability, and feasibility of neonatal screening for SMA in a UK setting. It is hoped that by doing so it will help establish the early detection, diagnosis, and access to the recently available therapeutic options for SMA.Screening will be done through the routine UK newborn blood spot screening pathway, using spare capacity from a newborns' Guthrie card (dried blood spot sample). A major objective of the design of this protocol and the processes it describes, together with the staff funding secured, has been to ensure that it will not interfere with the standard screening procedure in any way.Recruitment will be carried out in the maternity units of four hospital trusts in the Thames Valley: Oxford University Hospitals NHS Trust, Royal Berkshire NHS Foundation Trust, Milton Keynes University Hospital NHS Foundation Trust, and Buckinghamshire Healthcare NHS Trust.
The primary objective of the Schulze study is to evaluate the function of the upper limbs of subjects diagnosed with neuromuscular disorders, with and without use of the Abilitech Assist device in the clinic and home environments. Functional outcomes will include documenting active range of motion and the ability to perform activities of daily living (ADLs) using the standardized Canadian Occupational Performance Measure (COPM) and the Role Evaluation of Activities of Life (REAL) assessments. Secondary objectives are to assess the safety record and report on adverse events (AEs) and parameters related to device usage, including device usage time and the time required to don/doff the device. Secondary objectives also include characterization of user upper limb performance based on etiology.
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.
The primary objective of the study is to evaluate anxiety level during intrathecal administration (IT) under standard of care (SOC) and virtual reality (VR) conditions using a reliable self-rating scale.
The randomized controlled trial is aimed to discover the physiotherapy and hippotherapy effect and efficacy on children with SMA. The concept is to utilized two types of physiotherapy - the first concept is classic physiotherapy and the second one is hippotherapy. The hippotherapy concept will be in intervals of 15 minutes twice a day, the physiotherapy will be in intervals of 30 minutes once a day. In-patient therapy will be for 6 days. The efficacy will be assessed by biomedical measures - Qualisys Motion Capture Systems 2020.3., by molecular biological markers (lncRNA) in blood and by surface electromyography (EMG). The primary goal of this study is to compare two physiotherapeutic approaches - the recommended form of classical physiotherapy and the method on a neurophysiological basis - hippotherapy. The secondary intention of the research will be the appropriate intensity of therapy so that unwanted muscle fatigue does not occur.