Needs of ALS Patients With C9orf72 Mutation and Their Caregivers
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Survey for ALS patients, Survey for Caregivers.
- Who it may be relevant to
- Registry conditions: Amyotrophic Lateral Sclerosis. Basic parameters: from 18 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Italy
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
Investigation Into the Needs of ALS Patients With C9orf72 Mutation and Their Caregivers
Overview
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.
Interventions
- Other Survey for ALS patients
Survey to describe the various aspects related to the care, needs and quality of life of 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
Primary outcome measures
- Multidisciplinary care [Time frame: At enrolment]
- Home care [Time frame: At enrolment]
- Satisfaction of primary needs [Time frame: At enrolment]
- Satisfaction of economic support [Time frame: At enrolment]
- Age [Time frame: At enrolment]
- Burdensome commitment [Time frame: At enrolment]
- Psychological support [Time frame: At enrolment]
Eligibility criteria
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Study design
- Observational model
- Cohort
Study locations
Italy · 3 centers
- Istituto Auxologico Italiano IRCCS — Milan
- IRCCS Ospedale San Raffaele — Milan
- IRCCS Fondazione Mondino, Istituto Neurologico Nazionale a Carattere Scientifico — Pavia
Identifiers
NCT: NCT07302321 · 23C510