View clinical trials related to Motor Neuron Disease.
Filter by:Anti alfa-3 and alfa-7 ganglionic cholinergic receptors (anti-AChRs) antibodies (Abs) plasma removal by plasmapheresis (1,2) acutely improved dysautonomia symptoms in case reports with Pure Autonomic Failure (PAF) (3). We shall assess the prevalence of anti-AChRs Ab and the relationship among Ab titer, cardiovascular autonomic profile and symptoms in neurodegenerative diseases characterized by similar dysautonomia symptoms such as PAF, Amyotrophic Lateral Sclerosis (ALS) and Postural Orthostatic Tachycardia Syndrome (POTS) (4). Ab positive patients will undergo selective immunoabsorption once a week up to achievement of Ab titer lower than 65% of baseline followed by immunosuppressive therapy with prednisone. Both Ab positive and negative groups will undergo anti-AChR Abs, autonomic profile and dysautonomia symptoms assessment, every 4 months up to 3 years. Evidence of correlation among reduced Ab titer and autonomic profile and symptoms improvement may result in new effective therapy.
The purpose of this study is to learn more about amyotrophic lateral sclerosis (ALS) and other related neurodegenerative diseases, including frontotemporal dementia (FTD), primary lateral sclerosis (PLS), hereditary spastic paraplegia (HSP), progressive muscular atrophy (PMA) and multisystem proteinopathy (MSP). More precisely, the investigator wants to identify the links that exist between the disease phenotype (phenotype refers to observable signs and symptoms) and the disease genotype (genotype refers to your genetic information). The investigator also wants to identify biomarkers of ALS and related diseases.
Nearly 60% of Amyotrophic Lateral Sclerosis (ALS) patients have a low level of diagnostic certainty (possible, probable) at the time of diagnosis. In the absence of biomarkers, this diagnosis is based, among other things, on the demonstration of the diffusion of signs of denervation by electroneuromyography (ENMG). The objective of this study is to improve the earliness and the level of diagnostic certainty by better demonstrating the diffusion of the denervation process by whole body muscular MRI.
Most ALS care is centered on patient support and symptom management, making rehabilitation an integral aspect for slowing disease progression, prolonging life span, and increasing quality of life. Brain stimulation has been increasingly explored as a promising neuromodulatory tool to prime motor function in several neurological disorders. We propose a novel mechanism using remotely supervised brain stimulation to preserve motor function in individuals with ALS. This project will also aim to explore the effectiveness of brain stimulation on upper and lower motor neuron mechanisms in individuals with ALS.
Recently two staging systems have been proposed for amyotrophic lateral sclerosis (ALS), based on clinical milestones The King's college clinical staging system (1) and ALS Milano-Torino Staging (ALS-MITOS) (2). Further research to validate and develop an accurate staging system in different populations will improve our understanding of its pathogenesis, disease activity and progression. General objective : To validate the two previously proposed staging system and to test the interest of considering Neurofilament biomarkers in these systems. Specific objectives: 1) To validate the two classification systems in an independent cohort of patients with ALS followed-up in the ALS expert center of Limoges (France) 2) To assess the interest of Nf biomarkers to predict neurological decline
The primary objective of this study is to evaluate the efficacy of tofersen in presymptomatic adult carriers of a superoxide dismutase 1 (SOD1) mutation with elevated neurofilament (NF). The secondary objectives of this study are to evaluate the safety and tolerability tofersen and to evaluate the effect of tofersen on pharmacodynamics (PD)/treatment response biomarkers when initiated prior to versus at the time of emergence of clinically manifest amyotrophic lateral sclerosis (ALS).
Our working hypothesis is that the injection of autologous bone marrow mononuclear cells (BMNC) has a positive effect on the natural loss of motor units and on the increase in the size of the motor unit that occurs in patients with ALS during the evolution of the disease
The study will assess the safety of the drug enoxacin at specific dose levels in adults with ALS.
This Individual Patient Expanded Access IND has been created as requested by an 83-year-old man who suffers Primary Lateral Sclerosis and for which the drugs currently approved are not providing an improvement over the progression of this disease.
Hyperkinetic movement disorders in patients with diseases of motor neurons will be studied. Patients with spinal muscular atrophy (SMA) and motor neuron disease patients will be studied. Involuntary movements will be video recorded and accelerometry with electromyography (EMG) will be recorded in a subset of patients. Hyperkinetic involuntary movements studied will be tremor and minipolymyoclonus. Tremor is defined as involuntary, rhythmic, oscillatory movements of a body part, and minipolymyoclonus are intermittent and irregular movements, with amplitudes sufficient to produce visible movements of the joints. Hyperkinetic movement disorders may be of central or peripheral origin and using accelerometry with EMG may help distinguish the two mechanisms. In patients with SMA the investigators will explore the effect of Nusinersen treatment on phenomenology and amplitude of tremor and minipolymyoclonus. Aims: To explore the prevalence and phenomenology of hyperkinetic movement disorders in patients with MND and SMA and to study the underlying pathological mechanisms with the use of accelerometry and EMG. To explore the effect of Nusinersen treatment on phenomenology and amplitude of involuntary movements. Hypotheses: Based on clinical observations the investigators believe it will proven that hyperkinetic movement disorders are common in patients with disease of motor neurons. The investigators hypothesize that hyperkinetic movement disorders in MND and SMA patients are of peripheral origin, being caused by uneven graduation of contraction in the wasted muscles with large motor units being active with no sufficient previous recruitment of small units to smooth contraction of large motor units. If tremor and minipolymyoclonus in SMA are due to the activation of enlarged motor units which are caused by reinnervation of muscle fibers, the treatment with Nusinersen will increase the amplitude of tremor and minipolymyoclonus. Methods: Presence, quality, and regularity of hyperkinetic movement disorders will be defined using clinical examination, accelerometry and EMG. Hyperkinetic movements will be classified as minipolymyoclonus or tremor. In patients with SMA, the measurements will be repeated 6-12 months after initiation of treatment with Nusinersen.