Investigation Into the Needs of ALS Patients With C9orf72 Mutation and Their Caregivers
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 208
- 试验地点
- 3
- 主要终点
- Home care
研究概览
简要总结
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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
排除标准
- •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
研究组 & 干预措施
ALS Patients with C9orf72 Mutation
Survey to describe the various aspects related to the care, needs and quality of life of C9orf72 ALS patients
干预措施: Survey for ALS patients (Other)
Caregivers
Survey to describe the various aspects related to the care and time commitment for the assistance given by caregivers to C9orf72 ALS patients
干预措施: Survey for Caregivers (Other)
结局指标
主要结局
Home care
时间窗: At enrolment
ALS Patients with C9orf72 Mutation: Percentage with Home care
Multidisciplinary care
时间窗: At enrolment
ALS Patients with C9orf72 Mutation: Percentage with Multidisciplinary care
Satisfaction of primary needs
时间窗: At enrolment
ALS Patients with C9orf72 Mutation: Percentage with Satisfaction of primary needs
Psychological support
时间窗: At enrolment
Caregivers: Percentage of caregivers who makes use of Psychological support
Satisfaction of economic support
时间窗: At enrolment
ALS Patients with C9orf72 Mutation: Percentage with Satisfaction of economic support
Age
时间窗: At enrolment
Caregivers: Age
Burdensome commitment
时间窗: At enrolment
Caregivers: Percentage of caregivers who perceive the assistance as a Burdensome commitment
次要结局
未报告次要终点