EVALUATION OF SERUM INFLAMMATORY CYTOKINE CONCENTRATION IN HEREDITARY SENSITIVOMOTOR NEUROPATHIES

NCT06808581 | Completed DMC

• 1 other identifier: 21-AOI-04
• Study Type: interventional
• Target: 85
• Locations: 1 country
• Sites: 2

Brief Summary

The most common forms of hereditary neuropathy are Charcot-Marie-Tooth disease (CMT) and hereditary neuropathy with hypersensitivity to pressure (HNPP) or tomacular neuropathy. A number of patients with one of these pathologies have inflammatory infiltrates in their nerves. Although the pathophysiology has not yet been well understood, the involvement of the immune system has been discussed. Nerve hypertrophy is the main anomaly described in ultrasound in demyelinating hereditary neuropathies and to a lesser extent in axonal forms. Investigators propose to understand if there is a circulating marker of inflammation in patients with CMT or HNPP and find a correlation between the increase in plasma pro-inflammatory cytokines and ultrasound changes.

Conditions

Charcot-Marie-Tooth Disease; Hereditary Neuropathy With Hypersensitivity to Pressure

Outcome Measures

Primary Outcomes (1)

• Compare serum interleukin IL-1β between different subgroups of patients with genetic neuropathy (demyelinating/axonal/intermediate Charcot-Marie-Tooth disease (CMT) and hereditary neuropathy with hypersensitivity to pressure (HNPP)) and a control group.

  Serum interleukin IL-1β will be measured using v-plex MSD (Meso Scale Discovery) technology. The IL-1β concentrations will be expressed in ng/ml by calibration with a standard range

  at inclusion

Secondary Outcomes (7)

• Compare the serum concentration of pro-inflammatory cytokines among the different subgroups of patients with genetic neuropathy (demyelinating/axonal/intermediate CMT, HNPP) and with a homogeneous group of control subjects.

  at inclusion

• Compare morphological characteristics obtained by high-frequency ultrasound between the different subgroups of subjects

  within 2 months after inclusion

• Study the relationship between ultrasound data and plasma levels of pro-inflammatory cytokines within the different subgroups of subjects

  within 2 months after inclusion

• Study the link between the plasma level of pro-inflammatory cytokines and electrophysiological data obtained by performing electroneurography (ENG) within the different subgroups of subjects

  within 2 months after inclusion

• Study the relationship between ultrasound and electrophysiological data obtained by an electroneurography (ENG) within the different subgroups of subjects

  within 2 months after inclusion

Study Arms (1)

Identify a circulating marker of inflammation in patients with CMT or HNPP

EXPERIMENTAL

CMT = Charcot-Marie-Tooth disease HNPP = hereditary neuropathy with hypersensitivity to pressure

Diagnostic Test: blood test for pro-inflammatory cytokines and ultrasound of the median nerves

Interventions

blood test for pro-inflammatory cytokines and ultrasound of the median nerves DIAGNOSTIC_TEST

Blood test and ultrasound

Identify a circulating marker of inflammation in patients with CMT or HNPP

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• Patient over 18 years of age
• Patient with CMT of HNPP with genetic confirmation, or acquired acute inflammatory disease such as Guillain-Barré syndrome
• Patient able to walk alone or with a walking aid.
• Patient affiliated to a social security scheme,
• Patient who has given his consent in writing after written and oral information
• Patient over 18 years of age
• Patient affiliated to a social security scheme,
• Patient who has given his consent in writing after written and oral information -

You may not qualify if:

• Subject protected by law under guardianship or curators, or not able to participate in a clinical study under article L. 1121-16 of the French Public Health Code;
• Subject who has participated in a clinical research study during the last 3 months where he/she was exposed to a pharmaceutical product or medical device;
• Subject who has stayed in a tropical or subtropical country during the last 3 months;
• Pregnant or breastfeeding subject for women of childbearing age;
• Subject who has been physically active for less than 10 hours;
• Subject on a particular diet for medical reasons and prescribed by a doctor or dietitian (e.g., low-calorie or cholesterol-lowering diet);
• Person who regularly consumes large amounts of alcohol, i.e. more than 50 g of pure alcohol per day (for example, more than 4 glasses of wine 150 ml, more than 4 beers 250 ml, or more than 4 glasses of 40 ml containing a strong alcohol);
• Person who has used an illicit recreational drug in the last 3 months;
• Subject who has taken an immunosuppressive or immunomodulatory drug (except for intranasal or topical corticosteroids) in the last 2 weeks, or for more than 14 consecutive days in the last 6 months;
• Subject who has been vaccinated in the last 3 months;
• Subject who received a blood transfusion or immunoglobulins in the last 3 months;
• Person reporting not having fasted for at least 10 hours;
• Person reporting human immunodeficiency virus, hepatitis B virus or hepatitis C virus ;
• Subject who has had an infectious episode in the 3 weeks preceding the visit;
• Test positive for pregnancy urine;

Sponsors & Collaborators

• Centre Hospitalier Universitaire de Nice: lead

Study Sites (2)

Grasse CH

Grasse, Alpes Maritimes, 06000, France

Location

Nice CHU

Nice, Alpes Maritimes, 06000, France

Location

MeSH Terms

Conditions

Charcot-Marie-Tooth Disease

Interventions

Hematologic Tests

Condition Hierarchy (Ancestors)

Hereditary Sensory and Motor Neuropathy; Nervous System Malformations; Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Polyneuropathies; Peripheral Nervous System Diseases; Neuromuscular Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn

Intervention Hierarchy (Ancestors)

Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Investigative Techniques

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: BASIC SCIENCE
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 30, 2025
• First Posted: February 5, 2025
• Study Start: May 4, 2022
• Primary Completion: October 10, 2024
• Study Completion: October 10, 2024
• Last Updated: February 26, 2025

Record last verified: 2025-02

Locations

FR (2)