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.

NCT Number	NCT07302321
Lead Sponsor	Istituto Auxologico Italiano
Conditions	Amyotrophic Lateral Sclerosis
Enrollment	208 participants
Start Date	2025-10-01
Primary Completion	2026-03-31 (estimated)
Study Completion	2026-06-30 (estimated)
Updated on ClinicalTrials.gov	2026-02-04