Active clinical trials for "Motor Neuron Disease"

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.

The aim of this study is to create a repository of both cross-sectional and longitudinal data, including cognitive, linguistic, imaging and biofluid biological specimens, for neurodegenerative disease research and treatment.

This study evaluate use of a translated Norwegian version of the Edinburgh cognitive and behavioral amyotrophic lateral sclerosis screen (ECAS-N) as an early predictor in car-driving, working and use of advanced life-prolonging therapy.

The purpose of the Clinical Procedures To Support Research (CAPTURE) study is to utilize information collected in the medical record to learn more about a disease called amyotrophic lateral sclerosis (ALS) and related disorders.

This registry study aims to collect data on the provision of assistive devices, medicines, and other healthcare measures, such as ventilation therapy and nutrition support, in patients with Amyotrophic lateral sclerosis (ALS), Spinal muscular atrophy (SMA) and other neurological disorders. The data collected should describe the clinical practice, meaning real-world evidence and patient-reported outcomes.

The purpose of this study is to collect, from patients with sporadic and familial ALS and their family members, clinical data and blood samples for extraction of DNA, RNA, preparation of lymphocytes, plasma and serum to establish a repository for future investigations of genetic contributions to ALS pathogenesis. Blood samples for DNA extraction also would be collected from control subjects with no personal or family history of ALS phenotypes.

Longitudinally collect biomarkers from patients with amyotrophic lateral sclerosis (ALS) and control participants in order to further elucidate both potential causes and treatments for ALS. Samples and clinical information will be collected from patients with ALS and controls.

Pre-fALS is a prospective natural history and biomarker study of people not yet affected with ALS, but who are at genetic risk for developing ALS. The investigators aim to recruit unaffected (healthy) people from familial ALS (fALS) pedigrees in which a known genetic mutation associated with ALS has been identified; for this study, a fALS pedigree is one with two biologically related individuals who have or have had ALS and/or FTD. Individuals who may be at genetic risk for ALS and who belong to families with at least one affected family member who has tested positive for a known ALS genetic mutation may also be eligible to participate. Our goal is to study the pre-symptomatic phase, onset and progression of ALS and to learn more about genetic and environmental factors that put people at risk for developing ALS.

The properness of our past choices and action is usually judged according to what could have been if we had behaved differently. This ability to simulate alternatives to past factual events and actions is called counterfactual thinking (CFT) and is closely related to the decision-making process and future behaviors. In fact, the generation of CFT fulfills an important preparatory function, since it offers behavioral instructions that can guide the individual in facing similar decision-making problems in the future. Consequently, a damage or a reduction in the CFT are likely to impact on the individual's decision-making (DM) ability, especially regarding crucial decisions such as those in the medical field. In recent years, growing evidence has highlighted alterations in CFT in several neurological, neurodegenerative and psychiatric conditions, such as Huntington's disease, Parkinson's disease, prefrontal cortex damage, schizophrenia, obsessive-compulsive disorder and major depressive disorder, underlining how CFT deficits are specifically associated with frontal-executive dysfunction. These alterations, as mentioned, can lead to non-optimal DM processes and behaviors. Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disease characterized by the loss of motor neurons in the spinal cord, brain stem and motor cortex. Literature data have highlighted the presence of cognitive and behavioral alterations as integral parts of the disease, as a part of a continuum, with a partial overlap, between ALS and frontotemporal dementia (FTD). The progressive and fatal course of the disease and the presence of cognitive/behavioral alterations, together with the impairment in communication skills, have significant implications on patient's competence in the advance care planning, especially regarding informed consent to advance treatment and end-of-life decision. In particular, patients' perspectives about therapeutic choices and end-of-life interventions are likely to be influenced by cognitive-behavioral aspects, where the integrity of frontal-executive functions plays a crucial role in patients' DM ability. The investigators hypothesize that ALS patients will show a certain deficit in CFT, both in the ability to generate counterfactual thoughts related to a negative real-life and in the ability to use CFT to make causal inferences in fictional social scenarios. Moreover, a relationship between CFT and DM abilities is expected to be found. These expected impairments are likely to be associated with the cognitive and behavioral alterations that typically occur in ALS. Primary aim The primary purpose of the study is to investigate the integrity of CFT ability in patients with ALS. Specifically, this study aims to: (1) evaluate the functioning of the CFT in a group of patients affected by ALS; (2) investigate how the functioning of the CFT is associated with the ALS typical cognitive-behavioral alterations; (3) evaluate the possible association between CFT and DM abilities; (4) investigate how clinical, psychological, cognitive and behavioral variables affect CFT integrity. Secondary aim CFT ability will be investigated along the course of the disease, with patients being recruited in a longitudinal study. When possible, according to clinical conditions, patients will be assessed at 0-6-12-24 months, in order to better characterize CFT and DM functioning over time, as well as patients' cognitive-behavioral profile. . We expect to highlight a deficit or a reduction in patients' CFT ability and such alteration is likely to be associated with DM skills, as well as with the specific cognitive and behavioral profile of ALS patients.

The purpose of this study is to investigate the accessibility of beauty products for individuals with upper extremity disabilities. By examining various factors such as packaging design, product applicators, and ease of use, this research aims to identify barriers faced by individuals with upper extremity disabilities or visual deficits when using beauty products. The study seeks to provide insights and recommendations for improving the accessibility of beauty products, ultimately promoting inclusivity and enhancing the overall beauty experience for individuals with disabilities.