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.
Eligibility criteria
This trial accepts healthy volunteersQualifiers
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
Disqualifiers
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
Trial population
The study population include all Italian participants with ALS and/or FTD who have a mozygotic or dizygotic twin with (concordant) or without (discordant) the same condition willing to participate in the study. Once the consent is obtained, the twins will be followed up for 24 months in three possible Italian recruiting centres (Modena, Turin, Palermo).
Trial design
Cohort
Prospective
Treatments tested in this trial
multiomic profile to assess genetic and environmental risk factiors
Other interventionGenomic, 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.
Treatment groups
Trial outcomes
Primary outcomes
Environmental/genetic risk/protective factors involved in driving discordance in monozygotic (MZ) twins
Using a multi-omic approach, the investigators will establish a longitudinal cohort of Italian twins affected by ALS/FTD, collecting various samples to compare affected and unaffected twins across multiple biological and phenotypic variables. The aim is to uncover the factors underlying discordance in monozygotic twins, identifying what protects the unaffected twins and what predisposes the affected ones.
Sponsors and contacts
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Azienda Ospedaliero-Universitaria di Modena
Lead sponsor
A.O.U. Città della Salute e della Scienza - Molinette Hospital
Collaborator
Azienda Ospedaliera Universitaria Policlinico Paolo Giaccone Palermo
Collaborator
University of Modena and Reggio Emilia
Collaborator
Azienda Ospedaliero-Universitaria Careggi
Collaborator