Spinal Muscular Atrophy Clinical Trials

AMX0035 is a combination therapy designed to reduce neuronal death through blockade of key cellular death pathways originating in the mitochondria and endoplasmic reticulum (ER). This clinical trial is designed to demonstrate that treatment is safe, tolerable, and able to slow decline in function as measured by the ALSFRS-R. The ...

The purpose of this study is to assess the effect of CK-2127107 versus placebo on respiratory function and other measures of skeletal muscle function in patients with ALS.

The purpose of this study is to measure the safety, tolerability, and effectiveness of SPINRAZA® in adults with spinal muscular atrophy (SMA). There up to 12 study visits. Participation includes a physical and neurological exam, blood tests, questionnaires, and study related assessments. Up to $600.00 is provided for time and ...

Blood and cerebrospinal fluid samples will be subjected to the procedures required for the isolation of the different components immediately after the withdrawal. Subsequently, the levels of microRNAs, cytokines, chemokines, cell growth factors, neuronal damage markers (tau, phosphorylated and truncated tau, neurofilaments) and mitochondrial (lactate) and free d-amino acids (Objective ...

Amyotrophic Lateral Sclerosis (ALS), the most common MND, is a fatal adult-onset neuromuscular disease. Due to clinical heterogeneity and absence of biological tools to diagnose ALS, the delay between the first symptoms and diagnosis averages 9-13 months. A group of pathophysiological processes, including oxidative stress and glutamate-mediated excitotoxicity contribute to ...

Overview of data to be collected from enrolled infants followed longitudinally and entered into the NBSTRN Longitudinal Pediatric Data Resource Past medical history relevant to pregnancy, delivery, complications in the immediate neonatal period, birth parameters, family history and any medical problems other than SMA (ie prematurity, etc) Ongoing medical history ...

All patients will be asked about their data and their general medical history, and will be underwent on one hand, a complete neurological examination including the degree of neurological impairment quantified according to the functional rating scale of ALS (ALSFRS-r) or Scale for the assessment and rating of ataxia (SARA); ...

The potential to reprogram somatic cells into an embryonic state raises multiple basic research questions related both to the process of reprogramming and the properties of iPS cells. We will use various approaches to study the molecular mechanisms and processes that occur during reprogramming. We will use various experimental systems ...

Multicenter, open-label, phase 1 study of Cu(II)ATSM administered orally to patients wit amyotrophic lateral sclerosis/motor neuron disease. The study will be conducted in three phases. In the first two phases, dose cohorts of six patients each will participate in a single dose pharmacokinetic study followed by a 28-day repeated daily ...

Investigation of the epidemiological factors associated with amyotrophic lateral sclerosis (ALS) in Israel with a view to future international collaboration. Particularly addressing:- Differences between ethnic subgroups Differences between immigrant and native-born populations Differences according to military service profile Clinical features gathered at each routine visit ,throughout the entire course of ...