Genetics and Environment iNtersection In the ALS-FTD spectrum: an Italian Twins cohort studY with a Multi-Omics approach
Objectives of the study:
To develop a prospective national twins’ cohort and virtual biobank collecting clinical and instrumental data and biological samples of twins with ALS/FTD.
To define a multi-omics profile in ALS twins to disclose the burden of environmental or genetic risk factors for ALS/FTD and ALS specific biological signatures.
- to disclose part of the heritability gap in MZ discordant twin
- to assess the burden of epigenetic and transcriptomic differences between MZ discordant twins, uncovering which pathways are activated/inactivated in asymptomatic twins
- to evaluate the effects of environment on the risk of developing ALS/FTD (discordant twins) and of developing different phenotypes
- to investigate how lifetime environmental exposures affect microbiota composition and next metabolomics and immune profile
- to correlate biological and clinical features and disease heterogeneity (onset, progression, survival) for discordant twins
to assess biological, neurophysiological, neuropsychological and imaging signatures within the ALS- FTD spectrum of disease across discordant twins, in particular in the asymptomatic twin, in order to disclose potential presymptomatic subclinical traits. In concordant twins, the same extensive batteries will be used to evaluate whether disease progression proceeds at the same pace or affects similar or divergent neuroanatomical substrates.
Study design
Study flowchart
