Active clinical trials for "Amyotrophic Lateral Sclerosis"

Analyse a multidisciplinary follow-up of amyotrophic lateral sclerosis patients, monitored through a Cohort study at Geneva University Hospitals.

The aim of this study is to obtain an early biomarker of amyotrophic lateral sclerosis and Friedreich's Ataxia which allows to diagnose the disease in an initial stage and to follow up the patient with optic coherence tomography, a fast, non-invasive and comfortable method

Amyotrophic Lateral Sclerosis (ALS) is a motor neuron disease, which cases the death of neurons controlling the voluntary muscles. The death of motor neurons leads eventually to muscle weakness and muscle atrophy and as a consequence thereof, ALS patients die in average within three years after symptom onset due to respiratory failure. No cure for ALS is currently known, and the medical diagnosis and clinical treatment are impeded by the lack of reliable diagnostic tools for objective disease assessment, and by the limited insight in disease pathophysiology since the underlying disease mechanisms still have not been fully elucidated. An unbalance in the concentrations of GABA and glutamate, the most important inhibitory and excitatory brain metabolites, is suggested to play a role in the disease mechanisms of ALS. By applying Magnetic Resonance Spectroscopy (MRS), a magnetic resonance method which allows for quantification of brain metabolites, GABA and glutamate concentration can be quantified and thus hopefully elucidate their role in ALS disease mechanism. Threshold Tracking Transcranial Magnetic Stimulation (TT-TMS) studies carried out by a single research group have demonstrated cortical hyperexcitability (a physiology state in which neurons in the cerebral cortex are easier activated) as an early feature in ALS patients. For this reason, TT-TMS was suggested as a biomarker of ALS by the research group. However, to be able to suggest a test as a biomarker, one must show the test is reliable and reproducible. The objectives of this study are therefore: to explore the pathophysiology of ALS by investigating the interaction between neuronal networks as assessed by TT-TMS and conventional TMS and MRS, and to investigate the reliability and reproducibility of TT-TMS. The aim is to examine the utility of TT-TMS and MRS as diagnostic tools for objective detection of ALS in the early disease stage. The study will include 60 participants in total, subdivided into two groups: 30 healthy participants and 30 patients with clinical suspicion of motor neuron disease or ALS. Each participant will undergo examination with TMS and MRS, the primary outcomes will be compared between the two groups and the results from the TMS examinations and the MRS-scans will be correlated.

To explain the key brain network nodes and their brain mechanisms of ALS language cognitive impairment and decline, reveal the neural mechanism of the association between ALS language cognitive impairment and motor executive function, and provide potential early diagnostic markers and targeted therapeutic targets for ALS language cognitive impairment.

The research is aimed to explore the needs of clinical patients and their caregiver,so as to provide suggestions to the designer of the communication system.

To establish diagnostic tools to make an accurate clinical and pathological diagnosis of patients with clinical FTLD syndromes

In Amyotrophic Lateral Sclerosis (ALS), malnutrition is frequent (16 to 50 % of the patients) and is an independent prognostic factor. One of the implicated factors is the increase of resting energy expenditure (REE) which can be found in about 50 % of ALS patients. The origin of this hypermetabolism is currently unknown but could be located in the mitochondria. In fact, some studies have found mitochondrial abnormalities and the existence of an oxidative stress. Thus, the aim of this study is to characterize the mitochondrial abnormalities and the oxidant/antioxidant status of ALS patients and to determine their relationship with the metabolic status, hypermetabolism or normometabolism. Three groups of patients will be studied : 20 hypermetabolic ALS patients, 20 normometabolic ALS patients and 20 healthy volunteers paired for age and sex.