Survey of care needs for people with ALS and a C9orf72 mutation
Surveys people with ALS carrying a C9orf72 mutation and their caregivers about daily care needs.
Plain-language title generated from the registry record
Registry title: Needs of ALS Patients With C9orf72 Mutation and Their Caregivers
Key facts
- Where
- Milan and Pavia, ItalySee the 3 sites
Where in Italy
- IRCCS Ospedale San RaffaeleMilan, ItalyNot yet recruiting
- Istituto Auxologico Italiano IRCCSMilan, ItalyTaking people
- IRCCS Fondazione Mondino, Istituto Neurologico Nazionale a Carattere ScientificoPavia, ItalyNot yet recruiting
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- Istituto Auxologico Italiano
- Trial code
- NCT07302321
- Record updated
- 4 February 2026
- Original description
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.Read full original descriptionShow less
Investigation Into the Needs of ALS Patients With C9orf72 Mutation and Their Caregivers
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.
Inclusion: 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; Age 18 years or older; Preserved cognitive functions; Informed consent signed.
Exclusion: 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:.
ALS Patients:.