Genetics and Environment Intersection in the Amyotrophic Lateral Sclerosis - Frontotemporal Dementia Spectrum: An Italian Twins Cohort Study With a Multi-Omics Approach

What this Trial Is About

Researchers are studying twins affected by Amyotrophic Lateral Sclerosis (ALS) and/or Frontotemporal Dementia (FTD) to understand how genetic background and environmental exposures contribute to the onset and progression of these neurodegenerative diseases. This observational study focuses on both identical (monozygotic) and fraternal (dizygotic) twins, aiming to identify genetic and environmental risk factors and biological signatures associated with ALS/FTD. Participants include twins where at least one has ALS and/or FTD. They will undergo a detailed assessment including clinical evaluations, neuropsychological testing, neuroimaging, and collection of various biological samples such as blood, cerebrospinal fluid (optional), skin, hair, saliva, and stool. ALS patients will receive follow-up visits every 3-4 months, while their unaffected twins will be evaluated every 6 months for up to 24 months. The study also involves collecting exposure histories and analyzing environmental toxins and microbiota to explore their relationship with disease development. During the study, twins and possibly their parents will provide biological specimens and undergo extensive interviews and neurological exams. Data will be recorded in online forms and analyzed using multi-omics techniques to assess genetic, epigenetic, proteomic, microbiome, immunological, and metabolomic factors. The main outcome measured is the role of environmental and genetic factors in driving differences between monozygotic twins over 24 months. The study aims to uncover presymptomatic traits and better understand disease heterogeneity and progression.

Genetics and Environment iNtersection In the ALS-FTD Spectrum: an Italian Twins Cohort studY With a Multi-Omics Approach