Amyotrophic Lateral Sclerosis
Conditions
Keywords
Amyotrophic Lateral Sclerosis, C9orf72 mutation, Quality of life, Social Care Needs, Caregiver
Brief 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.
Interventions
OTHERSurvey for ALS patients
Survey to describe the various aspects related to the care, needs and quality of life of C9orf72 ALS patients
OTHERSurvey 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
Sponsors
Istituto Auxologico Italiano
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Inclusion 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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Multidisciplinary care | At enrolment | ALS Patients with C9orf72 Mutation: Percentage with Multidisciplinary care |
| Home care | At enrolment | ALS Patients with C9orf72 Mutation: Percentage with Home care |
| Satisfaction of primary needs | At enrolment | ALS Patients with C9orf72 Mutation: Percentage with Satisfaction of primary needs |
| Satisfaction of economic support | At enrolment | ALS Patients with C9orf72 Mutation: Percentage with Satisfaction of economic support |
| Age | At enrolment | Caregivers: Age |
| Burdensome commitment | At enrolment | Caregivers: Percentage of caregivers who perceive the assistance as a Burdensome commitment |
| Psychological support | At enrolment | Caregivers: Percentage of caregivers who makes use of Psychological support |
Countries
Italy
Contacts
CONTACTVincenzo Silani, Prof.
CONTACTLuca Grappiolo
Outcome results
None listed