View clinical trials related to Muscular Atrophy, Spinal.
Filter by:This observational study will use new smartwatch technology to continuously and remotely monitor the health of ALS patients and healthy controls over time. This information will be used to develop digital biomarkers for ALS.
The Synchron Motor Neuroprosthesis (MNP) is intended to be used in subjects with severe motor impairment, unresponsive to medical or rehabilitative therapy and a persistent functioning motor cortex. The purpose of this research is to evaluate safety and feasibility. The MNP is a type of implantable brain computer interface which bypasses dysfunctional motor neurons. The device is designed to restore the transmission of neural signal from the cerebral cortex utilized for neuromuscular control of digital devices, resulting in a successful execution of non-mechanical digital commands.
It is well known that patients with spinal muscular atrophy (SMA) have progressive decline of respiratory muscle function. Therapy traditionally involved supportive means to ensure optimal nutrition and airway clearance. Nusinersen (spinraza) is a disease-modifying medication approved for treatment of SMA in pediatric and adult patients. The goal of this study is to observe pulmonary function test (PFT) changes and respiratory muscle strength trends throughout the first year of treatment. A prospective, longitudinal study measuring pulmonary function testing (PFTs) changes in spinal muscular atrophy (SMA) patients. Patients will be patients with SMA who are approved and maintained on nusinersen. Patient will have a baseline PFT. Investigators will repeat PFT at 3, 6, and 12 months while on nusinersen treatment.
Clinical trials organization in several neuromuscular disorders (NMD) has some specific issues. Nonambulant status and difficulties with transportation are among them. Moreover a lot of patients with NMD have so poor condition that even short transportation is able to worse it. Such situation forces researchers to limit a region of recruitment for clinical trials and to exclude from trials more severe subgroup of patients, which cause additional issues especially for rare diseases. The purpose of this study is to prove hypothesis about possibility to reliably monitor patient condition remotely, without trial site visiting. Visit-free study design is potentially able to widen eligible patient population and to decrease patient dropout rate as well as burden of numerous assessments. Meanwhile assessment frequency could be increased enabling monitoring of short fluctuations in patients' condition. Spinal muscular atrophy (SMA) is a rare neuromuscular condition to which all mentioned above issues are completely applicable. Direct current stimulation (DCS) of neural structures is well studied and safe intervention, however, its effects on SMA patients' strength and durability has not been reported for today. The investigators suppose that investigation of DCS action in SMA patient population is an adequate model for visit-free design feasibility, reliability and sensitivity evaluation.
The purpose of this study is to collect blood samples to enable validation of genetic testing for diseases within a multi-disease carrier screening panel. Samples will be collected from adult women or men who have previously tested positive as carriers for various recessive conditions. These are healthy adults who carry a mutation that might place them at increased risk of having a child with a specific genetic disorder. Study participation will be open to adults that were previously tested as part of their routine medical care and where test results demonstrated positive carrier status for a specific genetic disease. Samples will be tested for the disease mutation for which the subjects provides documentation of prior testing.