Charcot-Marie-Tooth DiseaseCytokinesUSNCT06808581
EVALUATION OF SERUM INFLAMMATORY CYTOKINE CONCENTRATION IN HEREDITARY SENSITIVOMOTOR NEUROPATHIES
A study testing blood test for pro-inflammatory cytokines and ultrasound of the median nerves in people with Charcot-Marie-Tooth Disease and Hereditary Neuropathy With Hypersensitivity to Pressure, run by Centre Hospitalier Universitaire de Nice at 2 sites in France.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Charcot-Marie-Tooth Disease, Hereditary Neuropathy With Hypersensitivity to Pressure
- What is being tested?
- blood test for pro-inflammatory cytokines and ultrasound of the median nerves
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 85 participants
- Where
- 2 sitesFrance
- Study dates
- 4 May 2022to 10 Oct 2024
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Who may be able to join
- 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 -
Who cannot join
- 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);
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- 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;
- Subject with severe and/or chronic and/or recurrent disease
- Subject diagnosed with cancer and not in remission for more than 5 years.
- (only for patients) Other associated peripheral nerve pathology already diagnosed (inherited neuropathy or acquired neuropathy from another etiology).
- (only for Health volunteers) Presence of functional or physical signs of involvement of the median nerves, ulnar, external Sciatica Poplitea, internal Sciatica Poplitea, sural
Trial locations and contacts
2 sites in 1 country.
France2 sites
Grasse CH
Grasse, Alpes Maritimes, 06000
Nice CHU
Nice, Alpes Maritimes, 06000
About this study
Official title: EVALUATION OF SERUM INFLAMMATORY CYTOKINE CONCENTRATION
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.
- Being tested
- blood test for pro-inflammatory cytokines and ultrasound of the median nerves
- Medical subject headings
- Charcot-Marie-Tooth Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
blood test for pro-inflammatory cytokines and ultrasound of the median nervesDiagnostic test
Blood test and ultrasound
| Study group | Role | What they receive |
|---|---|---|
| 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 Receives: Diagnostic Test: blood test for pro-inflammatory cytokines and ultrasound of the median nerves |
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: 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.
A blood sample for measuring inflammatory cytokines (interleukins IL-6, IL-1α, IL-1β, IL-2, IL-4, IL-5, IL-7, IL-8, IL-10, IL-12 p70, IL-12/IL-23 p40, IL-13, IL-15, IL-16, IL-17A, interferon γ, Tumor necrosis factor α and β, Granulocyte-Macrophage Colony-Stimulating Factor, vascular endothelial growth factor, Chemokines CCL2, CCL3, CCL4, CCL11, CCL13, CCL17, CCL22, CCL26, and CXCL10) using v-plex technology (MesoScale Discovery)
Measured: at inclusion
Compare morphological characteristics obtained by high-frequency ultrasound between the different subgroups of subjects
The descriptive analysis of the morphology of the nerves will be carried out using a high-frequency ultrasound (28-33 megahertz, Canon Device) . The cross section area of the nerve will determine . The fascicular organization will be characterized according to 3 types: type 1 (enlarged nerve with hypoechoic nervous fascicles), type 2 (enlarged nerve with the juxtaposition of hypo and hyperechoic fascicles) and type 3 (normal-sized nerve with hypoechoic fascicles poorly differentiated from each other and spiny). Hypervascularity will be evaluated by a doppler signal at the endoneural vessels. The ultrastructural characterization of different types of fascicular organization will also be studied.
Measured: within 2 months after inclusion
Study the relationship between ultrasound data and plasma levels of pro-inflammatory cytokines within the different subgroups of subjects
Serum pro-inflammatory cytokine concentration will be measured using v-plex MSD (Meso Scale Discovery) technology. The ultrasound data taken into account will be the cross section area of the nerve, the echogenicity of the nerve and the presence of hypervascularisation
Measured: 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
Serum pro-inflammatory cytokine concentration will be measured using v-plex MSD (Meso Scale Discovery) technology. The electrophysiological data will be obtained at the and pre-defined observation sites of the motor nerves: distal latency (in milliseconds); motor conduction velocity (m/s); conduction block: drop in the amplitude and area of the of compound muscle action potential (amplitude in mV).
Measured: within 2 months after inclusion
Study the relationship between ultrasound and electrophysiological data obtained by an electroneurography (ENG) within the different subgroups of subjects
The ultrasound data taken into account will be the cross section area of the nerve, the echogenicity of the nerve and the evaluation of the nerve vascularisation. The electrophysiological data will be obtained at the pre-defined observation site of the motor nerves: distal latency (in milliseconds); motor conduction velocity (m/s);conduction block: drop in the amplitude and area of the compound muscle action potential (amplitude in mV).
Measured: within 2 months after inclusion
Study the relationship between serum concentration of pro-inflammatory cytokines among the different subgroups of patients and clinical scores within different subgroups of subjects using functional assessment scale CMT Neuropathy Score 2 (CMTNS2)
Serum pro-inflammatory cytokine concentration will be measured using v-plex MSD (Meso Scale Discovery) technology.
The CMT Neuropathy Score 2 (CMTNS2) is a scale used to assess the severity of neuropathy in Charcot-Marie-Tooth disease. The minimum score is 0, indicating no neuropathy, while the maximum score is 36, corresponding to very severe neuropathy. Scores can be divided into four categories: 0 to 4 indicates mild neuropathy, 5 to 14 moderate neuropathy, 15 to 24 severe neuropathy, and 25 to 36 very severe neuropathy. CMTNS2 includes the assessment of sensory symptoms such as paresthesia and pain, motor symptoms such as distal muscle weakness, functional ability based on gait and autonomy, muscle strength, vibration sensitivity, and nerve conduction velocity. This score is used to monitor disease severity
Measured: within 2 months after inclusion
Study the relationship between ultrasound data and the iMAX value: Study the relationship between ultrasound data and IMAX value.
The correlation study between structural changes observed in ultrasound and IMAX values will be conducted as indicated in the previous paragraphs.
Measured: within 2 months after inclusion
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Feb 2025
- Study start4 May 2022
- Primary completion10 Oct 2024
- Study completion10 Oct 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Charcot-Marie-Tooth DiseaseStudies of the same condition, open and under way.
- More trials run by Centre Hospitalier Universitaire de NiceThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Basic science
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 85 participants (actual)
Sponsor and investigators
- Lead sponsor
- Centre Hospitalier Universitaire de Nice
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06808581
- Sponsor's protocol ID
- 21-AOI-04
- Acronym
- CytokinesUS
- Status last verified
- Feb 2025
- First submitted
- 30 Jan 2025
- Last updated
- 26 Feb 2025
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 26 Feb 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- EVALUATION OF SERUM INFLAMMATORY CYTOKINE CONCENTRATION
- ClinicalTrials.gov ID
- NCT06808581
- Acronym / sponsor ID
- CytokinesUS / 21-AOI-04
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 85 participants (actual)
- Lead sponsor
- Centre Hospitalier Universitaire de NiceUniversity, hospital or other
- Study start
- 4 May 2022 (actual)
- Primary completion
- 10 Oct 2024 (actual)
- Study completion
- 10 Oct 2024 (actual)
- First posted
- 5 Feb 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Basic science
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Identify a circulating marker of inflammation in patients with CMT or HNPP | Experimental | Diagnostic Test: blood test for pro-inflammatory cytokines and ultrasound of the median nervesCMT = Charcot-Marie-Tooth disease HNPP = hereditary neuropathy with hypersensitivity to pressure |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (8 listed)
- 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
Key exclusion criteria (19 listed)
- 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;
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| blood test for pro-inflammatory cytokines and ultrasound of the median nervesBlood test and ultrasound | Diagnostic test | Identify a circulating marker of inflammation in patients with CMT or HNPP |
Primary outcome
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.
Time frame: at inclusion
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
7 secondary outcomes
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.
Time frame: at inclusion
Compare morphological characteristics obtained by high-frequency ultrasound between the different subgroups of subjects
Time frame: within 2 months after inclusion
Study the relationship between ultrasound data and plasma levels of pro-inflammatory cytokines within the different subgroups of subjects
Time frame: 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
Time frame: within 2 months after inclusion
Study the relationship between ultrasound and electrophysiological data obtained by an electroneurography (ENG) within the different subgroups of subjects
Time frame: within 2 months after inclusion
Study the relationship between serum concentration of pro-inflammatory cytokines among the different subgroups of patients and clinical scores within different subgroups of subjects using functional assessment scale CMT Neuropathy Score 2 (CMTNS2)
Time frame: within 2 months after inclusion
Study the relationship between ultrasound data and the iMAX value: Study the relationship between ultrasound data and IMAX value.
Time frame: within 2 months after inclusion
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 26 Feb 2025.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing blood test for pro-inflammatory cytokines and ultrasound of the median nerves in people with Charcot-Marie-Tooth Disease and Hereditary Neuropathy With Hypersensitivity to Pressure, run by Centre Hospitalier Universitaire de Nice at 2 sites in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 8 inclusion and 19 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 26 Feb 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
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. (time frame: at inclusion). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 26 Feb 2025.