View clinical trials related to Muscular Atrophy, Spinal.
Filter by:The Motor Function Measure (MFM), a reliable tool assessing motor function and its progression in most neuromuscular diseases, is widely used in France in many teams. It can be used regardless of the severity of the motor impairment or the ambulatory status of the patient, allowing its use throughout the whole follow-up period of the patient, even in case of the loss of walking. Two versions of the MFM exist, one composed of 32 items validated for patients from 6 years old (MFM-32) and a shorter version composed of 20 items validated for patients between 2 and 6 years old (MFM-20). In order to show the possible use of MFM-20 as early as the age of 2 years to validly and reliably monitor the evolution of the motor function of children treated with Nusinersen, we propose in this project to study the sensitivity to treatment-induced change of MFM-20 and the validity of the scale in this population.
The Motor Function Measure (MFM), a reliable tool assessing motor function and its progression in most neuromuscular diseases, is widely used in France in many teams. It can be used regardless of the severity of the motor impairment or the ambulatory status of the patient, allowing its use throughout the whole follow-up period of the patient, even in case of the loss of walking. Two versions of the MFM exist, one composed of 32 items originally validated for patients from 6 years old (MFM-32) and a shorter version composed of 20 items originally validated for patients between 2 and 6 years old (MFM-20). In order to prove the possible use of MFM-32 as early as the age of 2 years to validly and reliably monitor the evolution of the motor function of children treated with Nusinersen, we propose in this project to study the sensitivity to treatment-induced change of MFM-32 and the validity of the scale in this population.
This is a single center, 22-month observational study of nusinersen treatment in adult patients with spinal muscular atrophy (SMA). There will be a total of seven visits. Nusinersen is provided as standard of care and not considered research in this study. Information will be collected regarding the general health, and function including muscle strength of, as well as any positive and/or adverse events experienced by the study participants.
The aim of the proposed project is to evaluate whether the metabolome of patients with spinal muscular atrophy (SMA) before the initiation of treatment with nusinersen differs from the metabolome of healthy individuals and whether it changes 14 months after treatment with nusinersen.
Spinal Muscular Atrophy (SMA) is an autosomal recessive disease caused by a mutation of exon 7, in 95% of cases, encoding the gene for the motor neuron survival protein called SMN1 (Survival Motor Neuron) located on chromosome 5q. Patients with an SMA-5q mutation suffer from progressive muscle deficiency and subsequent atrophy induced by degeneration of motor neurons in the spinal cord. Gene therapy is now available for the management of spinal muscular atrophy and nusinersen is the first approved treatment. Nusinersen has been granted marketing authorization in France since May 30, 2017. Nusinersen has a high level of medical service rendered (MSR) for types I, II, and III, but the improvement in medical service rendered (IMSR) is assessed as moderate for types I and II. For Type III, IMSR is not known.
The primary objective of this study is to evaluate the clinical outcomes following treatment with nusinersen in participants with spinal muscular atrophy (SMA) who previously received onasemnogene abeparvovec. The secondary objectives of this study are to evaluate the safety and tolerability; clinical outcomes and pharmacodynamics (PD) of nusinersen treatment in participants with SMA who previously received onasemnogene abeparvovec.
The primary objective of this study is to evaluate the safety of nusinersen sodium injection in the postmarketing setting in China.The secondary objectives are to collect data on the efficacy and the pharmacokinetics of nusinersen sodium injection in the post-marketing setting in China.
This study aims to characterize the clinical-epidemiological profile and baseline characteristics of patients with spinal muscular atrophy (SMA) 5q types II and III in follow-up at the Brazilian Unified Public Health System (SUS). The study data will be based on patients´ medical records from several Brazilian public hospitals, which will be defined by the Brazilian Ministry of Health (MS).
Spinal cord injuries and people with Duchenne Muscular Dystrophy or Infant Spinal Muscular Atrophy (ISA) are prone to pain and pressure sores associated with prolonged sitting. For this reason, it is recommended that people with spinal cord injuries release pressure every 15 to 30 minutes and motorized wheelchair users use the electric positioning functions at least 1 minute every hour. The aim is to prevent and/or reduce pain and pressure sores. These devices could help to observe daily the variability of users' pressure maps, their impact on occupational performance, the link with pain and redness and could propose customized adjustments.
The primary objective is to evaluate the safety of nusinersen sodium injection in the postmarketing setting in Korea. The secondary objective is to evaluate the effectiveness of nusinersen sodium injection in the postmarketing setting in Korea.