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Needs of ALS Patients With C9orf72 Mutation and Their Caregivers

NCT ID: NCT07302321

Last Updated: 2025-12-24

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

208 participants

Study Classification

OBSERVATIONAL

Study Start Date

2025-10-01

Study Completion Date

2026-06-30

Brief Summary

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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.

Detailed Description

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Conditions

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Amyotrophic Lateral Sclerosis

Keywords

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

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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ALS Patients with C9orf72 Mutation

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

Survey for ALS patients

Intervention Type OTHER

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

Survey for Caregivers

Intervention Type OTHER

Survey to describe the various aspects related to the care and time commitment for the assistance given by caregivers to C9orf72 ALS patients

Interventions

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Survey for ALS patients

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

Intervention Type 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

Intervention Type OTHER

Eligibility Criteria

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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


* 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

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:
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Istituto Auxologico Italiano

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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Istituto Auxologico Italiano IRCCS

Milan, Lombardy, Italy

Site Status RECRUITING

IRCCS Fondazione Mondino, Istituto Neurologico Nazionale a Carattere Scientifico

Pavia, , Italy

Site Status NOT_YET_RECRUITING

Countries

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Italy

Central Contacts

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Vincenzo Silani, Prof.

Role: CONTACT

Phone: +3902619111

Email: [email protected]

Luca Grappiolo

Role: CONTACT

Phone: +3902619111

Email: [email protected]

Facility Contacts

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Vincenzo Silani, Prof.

Role: primary

Luca Diamanti, MD

Role: primary

Other Identifiers

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23C510

Identifier Type: -

Identifier Source: org_study_id