Cross-sectional Observational Study on the Impact of Neuromuscular Diseases on Quality of Life: Focus on Peripheral Neuropathies (Hereditary vs Inflammatory)
概览
- 阶段
- 不适用
- 状态
- 尚未招募
- 入组人数
- 60
- 试验地点
- 1
- 主要终点
- Quality of life (WHOQOL-BREF score)
概览
简要总结
Neuromuscular diseases affect the nerves and muscles and can cause weakness, pain, fatigue, and difficulties in daily life. These problems may reduce independence, social participation, and overall quality of life.This observational study aims to evaluate the impact of peripheral neuropathies on quality of life. It focuses on two types of peripheral neuropathies: hereditary neuropathies, caused by genetic factors, and inflammatory neuropathies, caused by immune-related nerve damage. Adult patients with these conditions will be assessed at a single time point, without any change to their usual medical care. Participants will complete questionnaires about daily functioning, well-being, and quality of life. Some questions will also explore the use of assistive devices and supportive tools in everyday life.The study hypothesizes that peripheral neuropathies significantly affect quality of life and that this impact differs between hereditary and inflammatory forms. The results aim to improve understanding of patients' needs and support better, more personalized care."
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Cross Sectional
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
- •Clinical and paraclinical diagnosis compatible with hereditary or inflammatory peripheral neuropathy, confirmed by the investigating physicians (genetic results for HPN if available; clinical/electrophysiological criteria for IPN).
- •Written informed consent.
- •Ability to complete the questionnaires (or with the assistance of a caregiver if necessary, specifying the mode of assistance).
排除标准
- •Legal incapacity (under guardianship or conservatorship).
- •Moderate to severe cognitive impairment (e.g., MMSE \< 27) preventing valid comprehension and completion of the questionnaires.
- •Active cancer undergoing chemotherapy or radiotherapy (treatment likely to significantly alter quality of life in a non-specific way).
- •Other acute serious medical conditions that could interfere with assessment, at the investigator's discretion.
研究组 & 干预措施
Patients with Hereditary peripheral neuropathies
"WHODAS 2.0: Assesses daily functioning and disability across six domains: understanding, mobility, self-care, interpersonal relationships, domestic activities, and social participation.
WHOQOL-BREF: Measures overall quality of life in four domains: physical, psychological, social relationships, and environment.
MPT Questionnaire (SOTU and ATD PA): Evaluates participants' attitudes, perceptions, and professional practices in a specific organizational or educational context."
干预措施: WHODAS 2.0 questionnaire (Other)
Patients with inflammatory peripheral neuropathies
"WHODAS 2.0: Assesses daily functioning and disability across six domains: understanding, mobility, self-care, interpersonal relationships, domestic activities, and social participation.
WHOQOL-BREF: Measures overall quality of life in four domains: physical, psychological, social relationships, and environment.
MPT Questionnaire (SOTU and ATD PA): Evaluates participants' attitudes, perceptions, and professional practices in a specific organizational or educational context."
干预措施: WHODAS 2.0 questionnaire (Other)
结局指标
主要结局
Quality of life (WHOQOL-BREF score)
时间窗: At the inclusion
Quality of life (WHOQOL-BREF score) at baseline (M0) in patients with hereditary peripheral neuropathy (HPN) and inflammatory peripheral neuropathy (IPN)
次要结局
- Comparison of perceived quality of life(At the inclusion)
- Association between functioning and quality of life(At the inclusion)
- Factors associated with impaired functioning and quality of life(At the inclusion)
- Role of assistive technologies (MPT)(At the inclusion)
- Profile of limitations(At the inclusion)
- Activity restrictions(At the inclusion)
- Environmental factors(At the inclusion)