Hereditary and Inflammatory Peripheral Neuropathies
Conditions
Brief summary
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.
Interventions
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.
Sponsors
Centre Hospitalier Universitaire de Nice
Study design
Observational model
CASE_CONTROL
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* 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).
Exclusion criteria
* 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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Quality of life (WHOQOL-BREF score) | At the inclusion | Quality of life (WHOQOL-BREF score) at baseline (M0) in patients with hereditary peripheral neuropathy (HPN) and inflammatory peripheral neuropathy (IPN) |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Association between functioning and quality of life | At the inclusion | correlation between WHODAS 2.0 scores and WHOQOL-BREF scores. |
| Factors associated with impaired functioning and quality of life | At the inclusion | identification of clinical or demographic variables linked to lower WHODAS 2.0 or WHOQOL-BREF scores. |
| Role of assistive technologies (MPT) | At the inclusion | Evaluation of the impact or use of assistive technologies on functioning and quality of life. |
| Comparison of perceived quality of life | At the inclusion | Comparison of perceived quality of life between HPN and IPN groups using WHOQOL-BREF scores |
| Activity restrictions | At the inclusion | Assessment using WHODAS 2.0 scores |
| Environmental factors | At the inclusion | Assessment using WHODAS 2.0 scores |
| Profile of limitations | At the inclusion | Assessment using WHODAS 2.0 scores to describe functional limitations |
Countries
France
Contacts
Primary ContactSabrina Sacconi
Backup ContactSlioui :Abderhmane
Outcome results
None listed