Needs of ALS Patients With C9orf72 Mutation and Their Caregivers

Sponsor
Istituto Auxologico Italiano
Study ID
NCT07302321
Status
Recruiting
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Conditions

Eligibility Criteria

Sex
ALL
Age
18 Years - N/A
Healthy Volunteers
Not accepted

Interventions

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

Study Details

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.

Key Dates

First listed
Dec 24, 2025
Start date
Oct 1, 2025
Status verified
Feb 2026
Primary completion
Mar 31, 2026
Completion
Jun 30, 2026

Study Design

Enrollment
208 participants (estimated)

Arms

  • Arm: ALS Patients with C9orf72 Mutation
    Survey to describe the various aspects related to the care, needs and quality of life of C9orf72 ALS patients
  • Arm: Caregivers
    Survey to describe the various aspects related to the care and time commitment for the assistance given by caregivers to C9orf72 ALS patients

Primary Outcome Measure

Multidisciplinary care [ Time Frame: At enrolment ]

Central Contacts

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