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Clinical Trials in Italy / NCT07302321
Recruiting Observational

Needs of ALS Patients With C9orf72 Mutation and Their Caregivers

NCT07302321 · tracked via the Priya Life Science Italy tracker
Sponsor
Istituto Auxologico Italiano
Phase
Observational
Started
2025-10-01
Last updated
2026-02-04

Condition(s) studied

Amyotrophic Lateral Sclerosis

Investigational drug(s) / intervention(s)

Survey for ALS patientsSurvey for Caregivers

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

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

Study 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.

Eligibility

Sex
ALL
Min age
18 Years
Max age
—
Healthy volunteers
No
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

Primary outcome measure(s)

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

Trial sites (3)

FacilityCityRegionStatus
Istituto Auxologico Italiano IRCCS Milan Lombardy Recruiting
IRCCS Ospedale San Raffaele Milan Italy Not Yet Recruiting
IRCCS Fondazione Mondino, Istituto Neurologico Nazionale a Carattere Scientifico Pavia Italy Not Yet Recruiting

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Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT07302321 on ClinicalTrials.gov ↗ ← All trials in Italy