Quality of Life in Hereditary and Inflammatory Peripheral Neuropathies

Cross-sectional Observational Study on the Impact of Neuromuscular Diseases on Quality of Life: Focus on Peripheral Neuropathies (Hereditary vs Inflammatory)

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."

Study Overview

• Status: Not yet recruiting
• Conditions: Hereditary and Inflammatory Peripheral Neuropathies
• Intervention / Treatment: Other: WHODAS 2.0 questionnaire

• Study Type: Observational
• Enrollment (Estimated): 60

Contacts and Locations

• Study Contact: Name: Sabrina Sacconi; Phone Number: + 33 0492038953; Email: sacconi.s@chu-nice.fr
• Study Contact Backup: Name: Slioui :Abderhmane; Phone Number: +33 0492038953; Email: :slioui.a@chu-nice.fr

Study Locations

• France
  • Alpes Maritimes
    • Nice, Alpes Maritimes, France, 06000
      • CHU de Nice
      • Contact: Sabrina Sacconi; Phone Number: + 33 0492038953; Email: sacconi.s@chu-nice.fr
      • Contact: Slioui :Abderhmane; Phone Number: +33 0492038953; Email: :slioui.a@chu-nice.fr

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

The study will include two groups of patients. Group A will consist of 30 patients with hereditary peripheral neuropathy (e.g., Charcot-Marie-Tooth disease and other HPNs). Group B will include 30 patients with inflammatory peripheral neuropathy (e.g., acute or chronic inflammatory demyelinating polyneuropathies, autoimmune neuropathies).

Description

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.

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
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."	Other: WHODAS 2.0 questionnaire; 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.; Other Names: WHOQOL BREF questionnaire; MPT Questionnaire (SOTU e ATD PA)
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."	Other: WHODAS 2.0 questionnaire; 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.; Other Names: WHOQOL BREF questionnaire; MPT Questionnaire (SOTU e ATD PA)

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Quality of life (WHOQOL-BREF score)	Quality of life (WHOQOL-BREF score) at baseline (M0) in patients with hereditary peripheral neuropathy (HPN) and inflammatory peripheral neuropathy (IPN)	At the inclusion

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Comparison of perceived quality of life	Comparison of perceived quality of life between HPN and IPN groups using WHOQOL-BREF scores	At the inclusion
Association between functioning and quality of life	correlation between WHODAS 2.0 scores and WHOQOL-BREF scores.	At the inclusion
Factors associated with impaired functioning and quality of life	identification of clinical or demographic variables linked to lower WHODAS 2.0 or WHOQOL-BREF scores.	At the inclusion
Role of assistive technologies (MPT)	Evaluation of the impact or use of assistive technologies on functioning and quality of life.	At the inclusion
Profile of limitations	Assessment using WHODAS 2.0 scores to describe functional limitations	At the inclusion
Activity restrictions	Assessment using WHODAS 2.0 scores	At the inclusion
Environmental factors	Assessment using WHODAS 2.0 scores	At the inclusion

Collaborators and Investigators

• Sponsor: Centre Hospitalier Universitaire de Nice

Study record dates

Study Major Dates

• Study Start (Estimated): February 1, 2026
• Primary Completion (Estimated): February 1, 2026
• Study Completion (Estimated): July 1, 2026

Study Registration Dates

• First Submitted: January 5, 2026
• First Submitted That Met QC Criteria: January 5, 2026
• First Posted (Actual): January 14, 2026

Study Record Updates

• Last Update Posted (Actual): January 14, 2026
• Last Update Submitted That Met QC Criteria: January 5, 2026
• Last Verified: January 1, 2026

More Information

Terms related to this study

• Other Study ID Numbers: 26Neuro01

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No