Biosignatures across the ALS/FTD disease spectrum
Disease Biosignatures in ALS/FTD Spectrum: New Impactful Biological Perspectives Beyond Clinical Approaches
Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta · NCT06856850
This project will try to find blood, skin, CSF and other easy-to-get biomarkers that distinguish people with ALS or FTD and help track disease over time.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 230 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta (other) |
| Locations | 4 sites (Milan and 3 other locations) |
| Trial ID | NCT06856850 on ClinicalTrials.gov |
What this trial studies
This observational project applies multi-omics (transcriptomics, proteomics, genomics), miRNA and protein-NMR analyses, and seed amplification assays for pathological TDP-43 to samples from CSF, serum, tears, skin and olfactory mucosa. The team combines neurology, biology, chemistry, physics and AI methods to generate molecular "fingerprints" of clinical phenotypes across the ALS–FTD continuum. Analyses will prioritize easily accessible peripheral tissues alongside traditional CSF to identify markers that stratify patients, predict mixed phenotypes, and monitor progression. Results are intended to inform diagnosis, patient selection and outcome measures for future therapeutic trials.
Who should consider this trial
Good fit: Adults meeting established clinical criteria for ALS or FTD who can provide the required samples (blood, CSF, skin, olfactory mucosa, tears) are the intended participants.
Not a fit: People without ALS/FTD, those with alternative diagnoses, or individuals unable or unwilling to provide the required tissue samples are unlikely to gain direct benefit from participation.
Why it matters
Potential benefit: If successful, this work could enable earlier and more precise biological diagnosis, better patient stratification for trials, and objective markers to monitor disease progression.
How similar studies have performed: Some prior work (for example neurofilament light in CSF/serum) has shown useful biomarkers, while peripheral tissue approaches and TDP-43 seed amplification assays are promising but remain emergent and not yet widely validated.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Clinical criteria for ALS (Brooks et al., 2000; de Carvalho M., 2008), FTD (GornoTempini et al., 2011; Rascovsky et al., 2011) Exclusion Criteria: * na
Where this trial is running
Milan and 3 other locations
- Fondazione IRCCS Istituto Neurologico Carlo Besta — Milan, Italy (RECRUITING)
- Università degli Studi di Napoli "Federico II" — Naples, Italy (NOT_YET_RECRUITING)
- Azienda Ospedaliero Universitaria di Sassari — Sassari, Italy (NOT_YET_RECRUITING)
- Consorzio Interuniversitario Risonanze Magnetiche Metallo Proteine (CIRMMP) — Sesto Fiorentino, Italy (NOT_YET_RECRUITING)
Study contacts
- Study coordinator: Fabio Moda, phd
- Email: fabio.moda@istituto-besta.it
- Phone: 0223942770
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.
Conditions: ALS, FTD, Neuropathic, Psychiatric Disorders, Idiopathic Intracranial Hypertension, Frontotemporal Dementia, Amyotrophic lateral sclerosis, frontotemporal dementia