NCT07302321

Needs of ALS Patients With C9orf72 Mutation and Their Caregivers

Investigation Into the Needs of ALS Patients With C9orf72 Mutation and Their Caregivers

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 208 (estimated)
• Sponsor: Istituto Auxologico Italiano · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: —

Summary

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

• Amyotrophic Lateral Sclerosis

Interventions

Type	Name	Description
OTHER	Survey for ALS patients	Survey to describe the various aspects related to the care, needs and quality of life of C9orf72 ALS patients
OTHER	Survey for Caregivers	Survey to describe the various aspects related to the care and time commitment for the assistance given by caregivers to C9orf72 ALS patients

Timeline

• Start date: 2025-10-01
• Primary completion: 2026-03-31
• Completion: 2026-06-30
• First posted: 2025-12-24
• Last updated: 2026-02-04

Locations

3 sites across 1 country: Italy