Personalized Medicine in Amyotrophic Lateral Sclerosis Using Genetics, Biomarkers, and Patient-Derived Stem Cells

What this Trial Is About

Amyotrophic Lateral Sclerosis ALS is a serious neurodegenerative disease affecting motor neurons, with significant impact on patients and healthcare systems. This research aims to better understand ALS by studying its clinical, genetic, biochemical, and neuroimaging features. Researchers plan to explore the diseases variability and identify different patient subtypes using advanced artificial intelligence AI methods, helping to move toward personalized treatment approaches. The study involves recruiting 200 ALS patients diagnosed by established criteria and classifying them by motor phenotype and cognitive function. Researchers will collect genetic information through next-generation sequencing and analyze brain structure and function using MRI and PET scans. Biomarkers in blood and cerebrospinal fluid will be measured at multiple timepoints to track disease progression. Additionally, patient cells will be reprogrammed into induced pluripotent stem cells iPSC to model ALS in the laboratory and study genetic variants. Participants will be evaluated at baseline and followed up every three months with assessments of muscle strength, functional status, and disease staging. Imaging and biomarker measurements will be repeated at 6 and 12 months. The study will use AI to integrate diverse data types to better categorize ALS subtypes and predict progression. Overall, the study lasts at least 12 months and combines clinical, genetic, imaging, biomarker, and laboratory modeling to advance knowledge of ALS.

A Patient-tailored Genetic/Biomarker/iPSC Combined Approach in ALS - PERMEALS