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NCT Number: NCT07302321

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.

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Key information

Conditions

Amyotrophic Lateral Sclerosis Central Nervous System Diseases Metabolic Diseases Motor Neuron Disease Nervous System Diseases Neurodegenerative Diseases Neuromuscular Diseases Nutritional and Metabolic Diseases Proteostasis Deficiencies Spinal Cord Diseases TDP-43 Proteinopathies

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Istituto Auxologico Italiano IRCCS, Milan, Lombardy, Italy

Loading trial locations.

Who can participate

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Survey for ALS patients

Other

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

Survey for Caregivers

Other

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

Primary outcomes

  1. Multidisciplinary care

    Time frame: At enrolment

    ALS Patients with C9orf72 Mutation: Percentage with Multidisciplinary care

  2. Home care

    Time frame: At enrolment

    ALS Patients with C9orf72 Mutation: Percentage with Home care

  3. Satisfaction of primary needs

    Time frame: At enrolment

    ALS Patients with C9orf72 Mutation: Percentage with Satisfaction of primary needs

  4. Satisfaction of economic support

    Time frame: At enrolment

    ALS Patients with C9orf72 Mutation: Percentage with Satisfaction of economic support

  5. Age

    Time frame: At enrolment

    Caregivers: Age

  6. Burdensome commitment

    Time frame: At enrolment

    Caregivers: Percentage of caregivers who perceive the assistance as a Burdensome commitment

  7. Psychological support

    Time frame: At enrolment

    Caregivers: Percentage of caregivers who makes use of Psychological support

Study contacts

Contact information is provided by the study sponsor or research team.

Luca Grappiolo

CONTACT

[email protected]

+3902619111 ext. 2894

Vincenzo Silani, Prof.

CONTACT

[email protected]

+3902619111 ext. 2937

Sponsors and collaborators

Lead sponsor

Istituto Auxologico Italiano

Other

Registry information

Official study title

Investigation Into the Needs of ALS Patients With C9orf72 Mutation and Their Caregivers

Acronym: C9survALS

Important dates

Study start
2025
Primary completion
2026
Study completion
2026
First posted
Dec 24, 2025
Registry last updated
Feb 4, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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