Study of Biomarkers to Understand Different Types of Amyotrophic Lateral Sclerosis ALS

What this Trial Is About

This observational study focuses on understanding the differences in symptoms and genetics among people with Amyotrophic Lateral Sclerosis ALS and other motor neuron diseases. Researchers aim to identify sets of biomarkers that explain how genetic factors relate to symptoms and to categorize patients into more similar groups based on these markers. The study is sponsored by Istituto Auxologico Italiano and seeks to improve knowledge about ALS variability through detailed biomarker analysis. Participants will undergo several evaluations, including neurological, neurophysiological, and neuropsychological tests. Genetic testing through whole exome sequencing will be performed, along with biomarker measurements in cerebrospinal fluid CSF and plasma. These assessments will take place at diagnosis, 6 months, and 1 year to track changes over time. During the study, participants will have clinical and neuropsychological assessments at baseline and follow-up points. The main outcomes measured are genetic screening and biomarker levels at diagnosis, 6 months, and 1 year. The study involves no treatment interventions but focuses on collecting detailed data to understand ALS better. Participation requires attending follow-up visits over one year to complete evaluations and provide samples.

Biomarker-driven Phenotypic Dissection of Amyotrophic Lateral Sclerosis