Active clinical trials for "Motor Neuron Disease"

A prospective and retrospective cohort study of about five years will be performed on blood and cerebrospinal fluid samples taken for diagnostic reasons from recruited patients within the Neuromed Neurology Unit. Subjects with other chronic neurodegenerative diseases such as Amyotrophic lateral sclerosis (ALS), Alzheimer's disease (AD) and Parkinson's disease (PD), and healthy subjects subjected to blood sampling and / or lumbar puncture for clinical reasons will be recruited As control groups.

The aim of this project is to analyze the macrophage transcriptome and protein markers of Amyotrophic Lateral Sclerosis (ALS) patients compared to controls (non-affected individuals, patients with other motor impairments) and asymptomatic ALS gene carriers, to find new pathways for therapeutic targets and disease biomarkers.

Brief Summary: The goal of the study is to generate a biorepository of longitudinal blood (plasma and serum), cerebral spinal fluid (CSF) and urine linked to genetics and longitudinal clinical information that are made available to the research community. To accomplish these goals, we will enroll 200 Amyotrophic Lateral Sclerosis (ALS) patients and 80 healthy controls from multiple sites, over a 5 year time frame. Additionally, speech measures will be collected on weekly basis at home for all participants. The measurements are performed using a speech recording application installed on their personal device. For a subset of both ALS and healthy participants, we will also collect at-home vital capacity on a weekly basis. It is expected that increased frequency data sampling of these outcome measures will help in better tracking of disease progression. Biofluids and clinical information are collected over a 20-month time frame for each individual enrolled in the research study. ALS participants will be coming to clinic for 5 study visits with a 4-month interval between visits. Healthy participants will be coming for 2 study visits with a 12-month interval between visits. These samples and clinical information will be stored in a de-identified manner and made available for investigators to use in future research studies.

ActiSEP is a monocentric academic study. Patients with amyotrophic lateral sclerosis may be included on a voluntary basis. The investigators plan to include a group of approximately 45 patients with ALS. The investigators have planned to assess patient every three months for a year. On each visit, participants will undergo a clinical examination with MRC sum score and Ashworth scores. They will perform few tests ( 6-minutes walk test (6MWT), dynamometric measure, electromyography, Edinburgh Cognitive and Behavioural ALS Screen ) and will answer to some questionaires (dysphagia handicap scale, ALS-SFR-r). After each visit, participants will wear Actimyo for one month daily.

CAPTURE ALS is a long-term data and biorepository platform that will facilitate future ALS research. CAPTURE ALS will provide the standardized systems and tools necessary to collect, store, and analyze vast amounts of multimodal information about ALS. These multimodal datasets and biosamples will be made available for use by researchers or industry across Canada and around the world in accordance with the CAPTURE ALS Data Sharing Policy to advance research on ALS.

"Brain-computer interfaces (BCIs) are computer-based systems that acquire brain signals, analyze them, and translate them into commands that are relayed to an output device to carry out a desired action. BCIs represent a very active and promising field of research among devices for people with severe motor disabilities. As the currently available systems correspond to research prototypes, they are not adapted to daily live situations. On the other hand, some systems have recently been commercialized, principally for video games but they are not satisfactory for use as a substitute technology in disability. A BCI's prototype for alternative communication using a virtual keyboard, the P300 Speller, has been developed by the National Institute for Research in Digital Science and Technology (Athena team - Nice University). This prototype includes an EEG-cap with gel based active electrodes. A recent study conducted on 20 patients with ALS (University Hospital, Nice) demonstrated the usability of the system and the patient satisfaction concerning the ease of use and utility. To achieve a system that can be used in daily live in severely disabled patients, technical developments are necessary. The investigators have conceptualized and developed an ergonomic, comfortable, headset, including dry electrodes to allow a prolonged use of the system. The purpose of the study conducted all along the development of the headset is to improve the developed system until a successful system is achieved. This study is a monocentric usability study conducted on ALS people.

This is the study of AMT-162 in rapidly progressive ALS Patients with SOD1 Mutations and is designed to evaluate the Safety, Tolerability, and Efficacy of Intrathecally Administered Gene Therapy AMT-162. AMT-162-001 is a Phase 1/2, Multi-center, Three-part Study : Part I Single Ascending Dose, Part II Randomized, Double-blind, Placebo-controlled, and Part III Extended Follow-up.

Amyotrophic Lateral Sclerosis (ALS) is a rare disease with a worldwide incidence of 2-3 cases per 100,000 individuals/year and it is characterized by progressive neurodegeneration of motor neurons. When motor neurons degenerate the ability of the brain to initiate and control muscle movement is lost. ALS manifests in two forms: Familiar ALS (FALS) with inherited risk genotypes, accounts for only 10% of cases and sporadic ALS (SALS) without apparent heritability accounts for 90% of cases. ALS can occur in both female and male subjects at any age but is more common in people aged over 40. Although the molecular mechanism underlying the pathogenesis of ALS is still under investigation, recent research has revealed that diseases affecting motor neurons may be associated to alterations of RNA metabolism and biogenesis of small non-coding micro RNAs (miRNAs). miRNAs are circulating molecules, whose expression profiles are widely described to have an important potential in monitoring the progression of a disease, to promote the development of more targeted therapies and/or to determine the effectiveness of treatments. Altered patterns of specific miRNAs expression have been described in several pathological conditions. Evidence shows a significant reduction in the levels of certain miRNAs also in patients with ALS. Among others, miRNA-218 has been described to play a critical role in the onset of motor neurons differentiation and in establishing cell identity and fate. Changes in the levels of miRNA-218 in the serum of ALS patients may potentially provide useful tools to determine the possible association with this disease and to candidate it as indicator of disease progression.

The goal of this study is to establish a genetic registry of patients with early-onset motor neuron and neuromuscular diseases. The investigators will collect samples from patients with a motor neuron or a neuromuscular disorder and their family members. The samples to be collected will be obtained using minimally invasive (whole blood) means. The research team will then extract high quality genomic DNA or RNA from these samples and use it to identify and confirm novel gene mutations and to identify genes which regulate the severity of motor neuron/neuromuscular diseases.

Induced pluripotent stem cells potentially may be useful in the future as an unlimited source of cells for transplantation. The major goal of the project is to develop human iPS cells from various types of cell cultures or lines from existing collections. The IPS cells will be developed for modeling diseases, for developing the technology that may eventually allow the use of IPS cells for transplantation therapy, and for basic research.