Needs of adults with the C9orf72 form of ALS and their caregivers
Official title: Investigation Into the Needs of ALS Patients With C9orf72 Mutation and Their Caregivers
Run by Istituto Auxologico Italiano · NCT07302321 · Data updated 2026-11-12
This online survey will try to describe care and quality-of-life needs for adults with ALS who have the C9orf72 mutation and for their caregivers in Italy.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 18 Years and up |
| Sex | All |
| Enrollment | 208 (estimated) |
| Sponsor | Istituto Auxologico Italiano Academic / other |
| Locations | 3 sites (Milan, Lombardy and 2 other locations) |
| Status | Recruiting |
| Started | October 1, 2025 |
| Main results expected | March 31, 2026 |
| Study ends | June 30, 2026 |
| Registry record updated | February 4, 2026 |
| Trial ID | NCT07302321 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Adults (≥18) with genetically confirmed C9orf72 ALS who speak Italian, can provide informed consent, and can complete an online survey, along with their primary caregivers, are the ideal participants.
✕Probably not a fit
Patients with significant cognitive impairment, those unable to complete at least half of the online survey, or non-Italian speakers are unlikely to benefit from this study's findings.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
The study uses online questionnaires for adults with genetically confirmed C9orf72 ALS and for their primary caregivers to collect data on care needs, quality of life, psychiatric symptoms, and social support. Eligible participants must be 18 or older, fluent in Italian, able to consent, and free of clinically relevant cognitive dysfunction or very high anxiety/depression (HADS ≥ 11). The multicenter effort is coordinated by Italian IRCCS neurological centers in Milan and Pavia and will compare patterns related to comorbidity with frontotemporal dementia and family history. Findings will be analyzed to identify practical steps to improve support and services for patients and caregivers.
Why it matters
Potential benefit: If successful, the results could guide targeted support and service changes that improve quality of life for C9orf72 ALS patients and their caregivers.
How similar studies have gone: While many studies have surveyed needs of ALS patients and caregivers generally, research specifically focused on C9orf72 carriers is limited, making this approach relatively novel.
Who can join: the full rules
Show full inclusion / exclusion criteria
ALS Patients: Inclusion Criteria: * Diagnosis of ALS with mutation C9orf72 (C9Pos) * Age 18 years or older * Fluency in Italian language * Ability to understand the nature of the study and to reply to the questions in the online survey * Informed consent signed Exclusion Criteria: * Clinically relevant cognitive dysfunction * Incapacity to reply to at least half of the questions of the online survey * Hospital Anxiety and Depression Scale (HADS) ≥ 11 Caregivers: Inclusion Criteria: * Caregiver of patient with diagnosis of ALS with mutation C9orf72 (C9Pos), who participates in this study * Age 18 years or older * Preserved cognitive functions * Informed consent signed
Where it's running
-
Istituto Auxologico Italiano IRCCS
Milan, Lombardy, Italy Recruiting -
IRCCS Ospedale San Raffaele
Milan, Italy Not yet recruiting -
IRCCS Fondazione Mondino, Istituto Neurologico Nazionale a Carattere Scientifico
Pavia, Italy Not yet recruiting
Study contacts
- Study coordinator: Vincenzo Silani, Prof.
- Email: vincenzo.silani@unimi.it
- Phone: +3902619111
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.