Needs of ALS Patients With C9orf72 Mutation and Their Caregivers

NCT07302321 | Recruiting

• 1 other identifier: 23C510
• Study Type: observational
• Target: 208
• Locations: 1 country
• Sites: 3

Brief 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

Keywords

Amyotrophic Lateral Sclerosis; C9orf72 mutation; Quality of life; Social Care Needs; Caregiver

Outcome Measures

Primary Outcomes (7)

• 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

Study Arms (2)

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

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

Interventions

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

Caregivers

Survey for ALS patients OTHER

Survey to describe the various aspects related to the care, needs and quality of life of C9orf72 ALS patients

ALS Patients with C9orf72 Mutation

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

ALS patients with mutation C9orf72 (C9Pos) and their caregivers

You may qualify if:

• 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

You may not qualify if:

• 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:
• 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

Sponsors & Collaborators

• Istituto Auxologico Italiano: lead

Study Sites (3)

Istituto Auxologico Italiano IRCCS

Milan, Lombardy, 20145, Italy

RECRUITING

IRCCS Ospedale San Raffaele

Milan, Italy

NOT YET RECRUITING

IRCCS Fondazione Mondino, Istituto Neurologico Nazionale a Carattere Scientifico

Pavia, Italy

NOT YET RECRUITING

MeSH Terms

Conditions

Amyotrophic Lateral Sclerosis

Interventions

Surveys and Questionnaires; Caregivers

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Motor Neuron Disease; Neurodegenerative Diseases; TDP-43 Proteinopathies; Neuromuscular Diseases; Proteostasis Deficiencies; Metabolic Diseases; Nutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Data Collection; Epidemiologic Methods; Investigative Techniques; Health Care Evaluation Mechanisms; Quality of Health Care; Health Care Quality, Access, and Evaluation; Public Health; Environment and Public Health; Health Personnel; Health Care Facilities Workforce and Services

Central Study Contacts

Vincenzo Silani, Prof.

CONTACT

+3902619111; vincenzo.silani@unimi.it

Luca Grappiolo

CONTACT

+3902619111; luca.grappiolo@auxologico.it

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 28, 2025
• First Posted: December 24, 2025
• Study Start: October 1, 2025
• Primary Completion: March 31, 2026
• Study Completion (Estimated): June 30, 2026
• Last Updated: February 4, 2026

Record last verified: 2026-02

Locations

IT (3)