Effects of Standing on Non-Ambulatory Children With Neuromuscular Conditions
OsteopeniaSpinal Muscular Atrophy4 moreChildren with neuromuscular disabilities and limited ambulation are at significant risk for decreased bone mineral density (BMD) and increased incidence of fracture. This is caused, in part, by low levels of load experienced by the skeleton due to a child's functional limitations. Low BMD has been shown to be predictive of fracture, and in fact, fractures usually occur without significant trauma in children with neuromuscular conditions. The discomfort and distress from fractures in this population are considerable, and the associated costs to the family and healthcare system are substantial. Numerous interventions have been devoted to improving BMD in these children. Stationary assisted standing devices are widely used and represent the standard-of-care. However, evidence supporting this approach is limited due to inadequate study designs with insufficient numbers of patients. This study will use load-sensing platforms in patients with neuromuscular conditions. Successful completion of this pilot study will assist in the development of a future multicenter clinical trial to definitively determine relationships, if any, between passive standing and measures of BMD, fracture incidence, pulmonary function, and health-related quality-of-life measures in children with a variety of neuromuscular disabilities (e.g., spinal muscular atrophy, cerebral palsy, muscular dystrophy, spina bifida, Rett syndrome). Hypothesis: Assisted standing treatment program will gradually increase their duration of standing by up to 75% after the baseline phase.
A Study of CK-2127107 in Patients With Spinal Muscular Atrophy
Spinal Muscular AtrophyThis study will evaluate the pharmacodynamic (PD) effect of CK-2127107 (hereafter referred to as reldesemtiv) versus placebo on measures of skeletal muscle function or fatigability in patients with Type II, III, or IV spinal muscular atrophy (SMA).
A Long-term Safety Study in Brazilian Patients With a Diagnosis of Spinal Muscular Atrophy Treated...
Spinal Muscular AtrophiesA long-term safety study in Brazilian patients with a confirmed diagnosis of Spinal Muscular Atrophy (SMA) treated with Onasemnogene Abeparvovec (Zolgensma®)
Controlled Trial to Evaluate Amifampridine Phosphate in Spinal Muscular Atrophy Type 3 Patients...
Muscular AtrophySpinalA two-period, two-treatment, crossover study to evaluate the safety, tolerability and efficacy of amifampridine phosphate in ambulatory patients diagnosed with spinal muscular atrophy (SMA) Type 3.
SPACE Trial: Pyridostigmine vs Placebo in SMA Types 2, 3 and 4
Spinal Muscular AtrophySMA1 moreA trial investigating the effects of pyridostigmine (mestinon) versus a placebo in a double-blind cross over trial in patients with hereditary proximal spinal muscular atrophy (SMA) types 2, 3 and 4.
A Study to Evaluate Long Term Safety, Tolerability, and Effectiveness of Olesoxime in Patients With...
Muscular AtrophySpinalThe purpose of this open-label, single arm study is to further evaluate long-term tolerability, safety and efficacy outcomes of olesoxime in participants with Spinal Muscular Atrophy (SMA) who previously participated in one of the following two clinical studies: TRO19622 CL E Q 1115-1 (open-label Phase Ib, multicenter, single- and multiple- dose study) or TRO19622 CL E Q 1275-1 (NCT01302600, Phase II/III, adaptive, parallel-group, double blind, randomized, placebo-controlled, multicenter, multinational study).
An Open-label Safety and Tolerability Study of Nusinersen (ISIS 396443) in Participants With Spinal...
Spinal Muscular AtrophyThe primary objective of this study is to examine the safety and tolerability of nusinersen (ISIS 396443) administered intrathecally to participants with Spinal Muscular Atrophy (SMA) who previously participated in ISIS 396443-CS2 (NCT01703988) or ISIS 396443-CS10 (NCT01780246). The secondary objective is to examine the plasma and cerebrospinal fluid (CSF) pharmacokinetic(s) (PK) of nusinersen administered intrathecally to participants with SMA who previously participated in ISIS 396443-CS2 or ISIS 396443-CS10.
Short and Long Term Treatment With 4-AP in Ambulatory SMA Patients
Spinal Muscular AtrophyThe purpose of this study is to assess whether 4-AP (Dalfampridine-ER, Ampyra) improves walking ability and endurance in adult patients with Spinal muscular atrophy (SMA) Type 3 compared to placebo and whether the duration of treatment affects outcome.
Gene Replacement Therapy Clinical Trial for Participants With Spinal Muscular Atrophy Type 1
SMA - Spinal Muscular AtrophyGene TherapyPhase 3 pivotal US trial studying open-label intravenous administration of onasemnogene abeparvovec-xioi in spinal muscular atrophy (SMA) Type 1 participants.
Study of ALS Reversals 2: Genetic Analyses
Amyotrophic Lateral SclerosisProgressive Muscular AtrophyThe purpose of this study is to try to understand why reversals of amyotrophic lateral sclerosis (ALS) and primary muscular atrophy (PMA) take place. The study will enroll patients with ALS or PMA reversals to give saliva samples in order to determine if the ALS or PMA reversal is because of certain changes in the genetic code.