View clinical trials related to Muscular Atrophy, Spinal.
Filter by:To evaluate the safety, tolerability and efficacy of intravenous administration of OAV101 (AVXS-101) in patients with spinal muscular atrophy (SMA) with bi-allelic mutations in the survival motor neuron 1 (SMN1) gene weighing ≥ 8.5 kg and ≤ 21 kg, over a 12 month period.
The study is a randomized, single oral dose, crossover study in up to three parts to investigate the relative bioavailability and bioequivalence of two different formulations of risdiplam 5 mg (dispersible tablets) versus the current risdiplam oral solution formulation in healthy male and female participants. The effect of food on these two dispersible tablets and the current oral solution will be studied, as well as the effect of omeprazole on the dispersible tablets.
Intrathecal administration of Nusinersen, an antisense oligonucleotide capable of increasing Survival Motor Neuron protein production, has been tested in Spinal Muscular Atrophy (SMA) to improve motor function and survival. A feature of adult SMA patients is a progressive neuromyopathic scoliosis, so spinal nusinersen administration can be challenging. Landmark identification using a pre-procedure ultrasound (US) facilitates technical performance of spinal anesthesia and allows for the elimination of radiation exposure. The aim of this randomized prospectic study is to determine if the US assistance for spinal administration of nusinersen is able to increase the proportion at successful 1st needle insertion of the needle. Secondary outcome measures are procedure time, patient satisfaction and prevalence of postdural puncture headache. Patients will be randomlized to receive a US-assisted nusinersen administration or a landmark based nusinersen administration.
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.
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 purpose of this study is to assess carer burden, needs, and expectations of Spinal Muscular Atrophy Parents