Exploring genetic and environmental factors in ALS and FTD using twins
Genetics and Environment iNtersection In the Amyotrophic Lateral Sclerosis - FrontoTemporal Dementia Spectrum: an Italian Twins Cohort studY With a Multi-Omics Approach
This study is trying to see how genes and the environment affect the development of ALS and Frontotemporal Dementia by looking at twins who have different experiences with these diseases.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 45 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | Azienda Ospedaliero-Universitaria di Modena Academic / other |
| Locations | 3 sites (Modena, Italy and 2 other locations) |
| Trial ID | NCT06595212 on ClinicalTrials.gov |
What this trial studies
This observational study aims to investigate the contributions of genetic and environmental factors to the onset of Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD) by studying discordant twins. Participants, consisting of monozygotic or dizygotic twins, will be followed for two years at specialized centers in Italy, providing biological samples for multi-omics analysis. The study seeks to uncover the heritability gap in ALS/FTD and assess how environmental exposures influence disease progression and phenotypes. By correlating biological signatures with clinical features, the research aims to identify protective factors and risk profiles associated with these neurodegenerative conditions.
Who should consider this trial
Good fit: Ideal candidates include adults over 18 years old who have a monozygotic or dizygotic twin, with at least one twin diagnosed with ALS or FTD.
Not a fit: Patients who are unwilling to participate in assessments or donate biological samples, as well as pregnant or breastfeeding women, may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to a better understanding of the risk factors for ALS and FTD, potentially guiding prevention and treatment strategies.
How similar studies have performed: While the approach of studying twins in relation to ALS and FTD is not widely tested, similar studies exploring genetic and environmental interactions in other conditions have shown promising results.
Eligibility criteria
Show full inclusion / exclusion criteria
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
Where this trial is running
Modena, Italy and 2 other locations
- Azienda Ospedaliero-Universitaria di Modena — Modena, Italy, Italy (Recruiting)
- Azienda Ospedaliero-Universitaria Policlinico P. Giaccone di Palermo — Palermo, Italy, Italy (Recruiting)
- Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino — Torino, Italy, Italy (Recruiting)
Study contacts
- Study coordinator: Jessica Mandrioli, MD, Prof
- Email: jessica.mandrioli@unimore.it
- Phone: 0593961640
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.