RECRUITINGOBSERVATIONAL

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

Genetics and Environment iNtersection In the Amyotrophic Lateral Sclerosis - FrontoTemporal Dementia Spectrum: an Italian Twins Cohort studY With a Multi-Omics Approach

About This Trial

The goal of this study is to learn from discordant twins affected by Amyotrophic Lateral Sclerosis and/or Frontotemporal Dementia the contribution of genetic background versus environmental exposure. The main questions it aims to answer is: * How far does the genetic background explain the onset of ALS/FTD in discordant twins? * Which environmental factors and events occurring in post-fetal life influence the onset or progression of this neurodegenerative condition? Participants with ALS and/or FTD with a monozygotic or dizygotic twin willing to contribute to this research will be followed up for two years by specialized Motor Neuron Disorders centers in Italy, donating biological specimen for -omic sciences analysis, and checking out if prodromal signs/symptoms of these two conditions will develop during time.

Who May Be Eligible (Plain English)

Who May Qualify: - Age \>18 yrs - Presence of MZ or DZ twins in the family both willing to participate in the study and able to provide willing to sign a consent form - At least one twin is affected by ALS as defined by Gold Coast Criteria (Shefner et al., 2020) and/or by FTD as defined by Strong and colleagues (Strong et al., 2017) - Subjects able and willing to comply with study procedures as per protocol - Subjects able to understand, and capable of providing willing to sign a consent form at screening visit before any protocol-specific procedures Who Should NOT Join This Trial: - Unwillingness to perform assessments as stated in the protocol at least during baseline visit for both twins - Unwillingness to donate biological samples collected at periphery (lumbar puncture excluded) for both twins - Women who are pregnant or breastfeeding Always talk to your doctor about whether this trial is right for you.

Original Eligibility Criteria

View original clinical language

Inclusion Criteria: * Age \>18 yrs * Presence of MZ or DZ twins in the family both willing to participate in the study and able to provide informed consent * At least one twin is affected by ALS as defined by Gold Coast Criteria (Shefner et al., 2020) and/or by FTD as defined by Strong and colleagues (Strong et al., 2017) * Subjects able and willing to comply with study procedures as per protocol * Subjects able to understand, and capable of providing informed consent at screening visit before any protocol-specific procedures Exclusion Criteria: * Unwillingness to perform assessments as stated in the protocol at least during baseline visit for both twins * Unwillingness to donate biological samples collected at periphery (lumbar puncture excluded) for both twins * Women who are pregnant or breastfeeding

Treatments Being Tested

OTHER

multiomic profile to assess genetic and environmental risk factiors

Genomic, epigenetic, proteomic, microbiome, immunology, biomarker, metabolite, pesticide, metal, and metalloid investigations will be conducted. The twins will be followed longitudinally from a clinical perspective, with biological sample collections to assess discordance and identify early disease signatures in unaffected individuals.

Locations (3)

Azienda Ospedaliero-Universitaria di Modena

Modena, Italy, Italy

Azienda Ospedaliero-Universitaria Policlinico P. Giaccone di Palermo

Palermo, Italy, Italy

Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino

Torino, Italy, Italy