Needs of ALS Patients With C9orf72 Mutation and Their Caregivers (C9survALS)

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.

Study Overview

• Status: Recruiting
• Conditions: Amyotrophic Lateral Sclerosis
• Intervention / Treatment: Other: Survey for ALS patients; Other: Survey for Caregivers

• Study Type: Observational
• Enrollment (Estimated): 208

Contacts and Locations

• Study Contact: Name: Luca Grappiolo; Phone Number: 2894 +3902619111; Email: luca.grappiolo@auxologico.it
• Study Contact Backup: Name: Vincenzo Silani, Prof.; Phone Number: 2937 +3902619111; Email: vincenzo.silani@unimi.it

Study Locations

• Italy
  • Milan, Italy
    • Not yet recruiting
    • IRCCS Ospedale San Raffaele
    • Contact: Massimo Filippi, MD; Email: filippi.massimo@hsr.it
  • Pavia, Italy
    • Not yet recruiting
    • IRCCS Fondazione Mondino, Istituto Neurologico Nazionale a Carattere Scientifico
    • Contact: Luca Diamanti, MD; Email: luca.diamanti@mondino.it
  • Lombardy
    • Milan, Lombardy, Italy, 20145
      • Recruiting
      • Istituto Auxologico Italiano IRCCS
      • Contact: Vincenzo Silani, Prof.; Phone Number: 2937 +39-02619111; Email: vincenzo.silani@unimi.it

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: N/A

• Sampling Method: Probability Sample

Study Population

ALS patients with mutation C9orf72 (C9Pos) and their caregivers

Description

ALS Patients:

Inclusion Criteria:

• 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

Exclusion Criteria:

• 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:

Inclusion Criteria:

• 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

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
ALS Patients with C9orf72 Mutation; Survey to describe the various aspects related to the care, needs and quality of life of C9orf72 ALS patients	Other: Survey for ALS patients; Survey to describe the various aspects related to the care, needs and quality of life of C9orf72 ALS patients
Caregivers; Survey to describe the various aspects related to the care and time commitment for the assistance given by caregivers to 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

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Multidisciplinary care	ALS Patients with C9orf72 Mutation: Percentage with Multidisciplinary care	At enrolment
Home care	ALS Patients with C9orf72 Mutation: Percentage with Home care	At enrolment
Satisfaction of primary needs	ALS Patients with C9orf72 Mutation: Percentage with Satisfaction of primary needs	At enrolment
Satisfaction of economic support	ALS Patients with C9orf72 Mutation: Percentage with Satisfaction of economic support	At enrolment
Age	Caregivers: Age	At enrolment
Burdensome commitment	Caregivers: Percentage of caregivers who perceive the assistance as a Burdensome commitment	At enrolment
Psychological support	Caregivers: Percentage of caregivers who makes use of Psychological support	At enrolment

Collaborators and Investigators

• Sponsor: Istituto Auxologico Italiano

Study record dates

Study Major Dates

• Study Start (Actual): October 1, 2025
• Primary Completion (Estimated): March 31, 2026
• Study Completion (Estimated): June 30, 2026

Study Registration Dates

• First Submitted: November 28, 2025
• First Submitted That Met QC Criteria: December 10, 2025
• First Posted (Actual): December 24, 2025

Study Record Updates

• Last Update Posted (Actual): February 4, 2026
• Last Update Submitted That Met QC Criteria: February 3, 2026
• Last Verified: February 1, 2026

More Information

Terms related to this study

• Keywords: Amyotrophic Lateral Sclerosis; Quality of life; Caregiver; C9orf72 mutation; Social Care Needs
• Additional Relevant MeSH Terms: Central Nervous System Diseases; Nervous System Diseases; Neuromuscular Diseases; Metabolic Diseases; Neurodegenerative Diseases; Spinal Cord Diseases; TDP-43 Proteinopathies; Proteostasis Deficiencies; Motor Neuron Disease; Nutritional and Metabolic Diseases; Amyotrophic Lateral Sclerosis; Health Care Quality, Access, and Evaluation; Investigative Techniques; Epidemiologic Methods; Data Collection; Health Care Evaluation Mechanisms; Quality of Health Care; Public Health; Environment and Public Health; Health Care Facilities Workforce and Services; Health Personnel; Surveys and Questionnaires; Caregivers
• Other Study ID Numbers: 23C510

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No