Needs of ALS Patients With C9orf72 Mutation and Their Caregivers (NCT07302321) | Clinical Trial Compass
RecruitingNot Applicable
Needs of ALS Patients With C9orf72 Mutation and Their Caregivers
Italy208 participantsStarted 2025-10-01
Plain-language 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.
Who can participate
Age range
18 Years
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
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
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.