Actively Recruiting
Needs of ALS Patients With C9orf72 Mutation and Their Caregivers
Led by Istituto Auxologico Italiano · Updated on 2026-02-04
208
Participants Needed
3
Research Sites
38 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Individuals with Amyotrophic Lateral Sclerosis (ALS) carrying the C9orf72 HRE mutation (C9Pos) often exhibit different phenotypic traits compared to other patients (C9Neg), presenting a more aggressive form of the disease, with also a higher frequency of comorbidity with frontotemporal dementia (ALS-FTD) and a greater prevalence of family history of ALS and/or other neurodegenerative diseases. Considering these characteristics (comorbidity with FTD and family history of ALS and/or other neurodegenerative pathologies) as factors that have their importance from an assistance point of view, both C9orf72 patients and their caregivers may have particular needs in several respects, and in this sense this investigation is configured. This survey aims to describe the various aspects related to the care and quality of life of C9orf72 ALS patients and their respective caregivers, with the goal of identifying actionable steps to improve the quality of life for both.
CONDITIONS
Official Title
Needs of ALS Patients With C9orf72 Mutation and Their Caregivers
Who Can Participate
Eligibility Criteria
You may qualify if you...
- 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
- Caregiver of patient with diagnosis of ALS with mutation C9orf72 (C9Pos), who participates in this study
- Preserved cognitive functions (for caregivers)
You will not qualify if you...
- Clinically relevant cognitive dysfunction
- Incapacity to reply to at least half of the questions of the online survey
- Hospital Anxiety and Depression Scale (HADS) score of 11 or higher
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 3 locations
1
Istituto Auxologico Italiano IRCCS
Milan, Lombardy, Italy, 20145
Actively Recruiting
2
IRCCS Ospedale San Raffaele
Milan, Italy
Not Yet Recruiting
3
IRCCS Fondazione Mondino, Istituto Neurologico Nazionale a Carattere Scientifico
Pavia, Italy
Not Yet Recruiting
Research Team
V
Vincenzo Silani, Prof.
CONTACT
L
Luca Grappiolo
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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