Amyotrophic Lateral SclerosisC9survALSNCT07302321
Needs of ALS Patients With C9orf72 Mutation and Their Caregivers
An observational study of Amyotrophic Lateral Sclerosis, run by Istituto Auxologico Italiano at 3 sites in Italy.
Trial 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… Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Amyotrophic Lateral Sclerosis
- What is being tested?
- Survey for ALS patients and Survey for Caregivers
- How many people
- 208 participants
- Where
- 3 sitesItaly
- Study dates
- 1 Oct 2025to 30 Jun 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Adult, Older adult
Study population: ALS patients with mutation C9orf72 (C9Pos) and their caregivers
Who may be able to join
- 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
Show all 9Show fewer
- Age 18 years or older
- Preserved cognitive functions
- Informed consent signed
Who cannot join
- 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:
Trial locations and contacts
3 sites in 1 country. Contact the study team or a site near you to ask about taking part.
Italy3 sites, 3 recruiting
- Recruiting
Istituto Auxologico Italiano IRCCS
Milan, Lombardy, 20145
Vincenzo Silani, Prof., +39-02619111 ext. 2937, vincenzo.silani@unimi.it
- Not yet recruiting
IRCCS Ospedale San Raffaele
Milan
Massimo Filippi, MD, filippi.massimo@hsr.it
- Not yet recruiting
IRCCS Fondazione Mondino, Istituto Neurologico Nazionale a Carattere Scientifico
Pavia
Luca Diamanti, MD, luca.diamanti@mondino.it
About this study
Official title: Investigation Into the Needs of ALS Patients With C9orf72 Mutation and Their Caregivers
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
- Being tested
- Survey for ALS patients, Survey for Caregivers
- Keywords
- Amyotrophic Lateral Sclerosis, C9orf72 mutation, Quality of life, Social Care Needs, Caregiver
- Medical subject headings
- Amyotrophic Lateral Sclerosis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Survey for ALS patientsOther
Survey to describe the various aspects related to the care, needs and quality of life of C9orf72 ALS patients
Survey for CaregiversOther
Survey to describe the various aspects related to the care and time commitment for the assistance given by caregivers to C9orf72 ALS patients
| Study group | Role | What they receive |
|---|---|---|
| ALS Patients with C9orf72 Mutation | Survey to describe the various aspects related to the care, needs and quality of life of C9orf72 ALS patients Receives: 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 Receives: Other: Survey for Caregivers |
What is being measured
The primary outcome is the main question the study is designed to answer.
Multidisciplinary care
ALS Patients with C9orf72 Mutation: Percentage with Multidisciplinary care
Measured: At enrolment
Home care
ALS Patients with C9orf72 Mutation: Percentage with Home care
Measured: At enrolment
Satisfaction of primary needs
ALS Patients with C9orf72 Mutation: Percentage with Satisfaction of primary needs
Measured: At enrolment
Satisfaction of economic support
ALS Patients with C9orf72 Mutation: Percentage with Satisfaction of economic support
Measured: At enrolment
Age
Caregivers: Age
Measured: At enrolment
Burdensome commitment
Caregivers: Percentage of caregivers who perceive the assistance as a Burdensome commitment
Measured: At enrolment
Psychological support
Caregivers: Percentage of caregivers who makes use of Psychological support
Measured: At enrolment
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted24 Dec 2025
- Study start1 Oct 2025
- Primary completion31 Mar 2026 (estimated)
- Study completion30 Jun 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Amyotrophic Lateral SclerosisStudies of the same condition, open and under way.
- More trials run by Istituto Auxologico ItalianoThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 208 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Istituto Auxologico Italiano
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07302321
- Sponsor's protocol ID
- 23C510
- Acronym
- C9survALS
- Status last verified
- Feb 2026
- First submitted
- 28 Nov 2025
- Last updated
- 4 Feb 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 4 Feb 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Investigation Into the Needs of ALS Patients With C9orf72 Mutation and Their Caregivers
- ClinicalTrials.gov ID
- NCT07302321
- Acronym / sponsor ID
- C9survALS / 23C510
- Conditions
- Amyotrophic Lateral Sclerosis
- Keywords
- Amyotrophic Lateral Sclerosis, C9orf72 mutation, Quality of life, Social Care Needs, Caregiver
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 208 participants (estimated)
- Lead sponsor
- Istituto Auxologico ItalianoUniversity, hospital or other
- Study start
- 1 Oct 2025 (actual)
- Primary completion
- 31 Mar 2026 (estimated)
- Study completion
- 30 Jun 2026 (estimated)
- First posted
- 24 Dec 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| ALS Patients with C9orf72 Mutation | – | Other: Survey for ALS patientsSurvey to describe the various aspects related to the care, needs and quality of life of C9orf72 ALS patients |
| Caregivers | – | Other: Survey for CaregiversSurvey to describe the various aspects related to the care and time commitment for the assistance given by caregivers to C9orf72 ALS patients |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Age groups
- Adult, Older adult
- Study population
- ALS patients with mutation C9orf72 (C9Pos) and their caregivers
Key inclusion criteria (9 listed)
- 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
Key exclusion criteria (4 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Survey for ALS patientsSurvey to describe the various aspects related to the care, needs and quality of life of C9orf72 ALS patients | Other | ALS Patients with C9orf72 Mutation |
| Survey for CaregiversSurvey to describe the various aspects related to the care and time commitment for the assistance given by caregivers to C9orf72 ALS patients | Other | Caregivers |
Primary outcome
Multidisciplinary care
Time frame: At enrolment
ALS Patients with C9orf72 Mutation: Percentage with Multidisciplinary care
Home care
Time frame: At enrolment
ALS Patients with C9orf72 Mutation: Percentage with Home care
Satisfaction of primary needs
Time frame: At enrolment
ALS Patients with C9orf72 Mutation: Percentage with Satisfaction of primary needs
Satisfaction of economic support
Time frame: At enrolment
ALS Patients with C9orf72 Mutation: Percentage with Satisfaction of economic support
Age
Time frame: At enrolment
Caregivers: Age
Burdensome commitment
Time frame: At enrolment
Caregivers: Percentage of caregivers who perceive the assistance as a Burdensome commitment
Psychological support
Time frame: At enrolment
Caregivers: Percentage of caregivers who makes use of Psychological support
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 4 Feb 2026.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
3 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Amyotrophic Lateral Sclerosis, run by Istituto Auxologico Italiano at 3 sites in Italy.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 9 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 4 Feb 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Vincenzo Silani, Prof. (+3902619111 ext. 2937, vincenzo.silani@unimi.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Multidisciplinary care (time frame: At enrolment). The study lists 7 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 4 Feb 2026.