An interventional study of blood test for pro-inflammatory cytokines and ultrasound of the median nerves in Charcot-Marie-Tooth Disease and Hereditary Neuropathy With Hypersensitivity to Pressure, sponsored by Centre Hospitalier Universitaire de Nice. Completed at 2 sites in France. Open to participants aged 18 Years and older, including healthy volunteers. Per ClinicalTrials.gov, last updated 2025-02-26.
Sponsored by Centre Hospitalier Universitaire de Nice · Not applicable, Interventional, and Basic science
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Among 23 studies in Charcot-Marie-Tooth Disease with a site in France — 6 open to participants now, 10 under way, 2 of them phase 3. Charcot-Marie-Tooth Disease · France.
Among the 23 studies in Charcot-Marie-Tooth Disease with a site in France, this one is the 5th largest by enrollment of the 17 interventional ones that give a count, is the only one that started in 2022, is one of 10 with no phase, and was the 15th registered.
113 studies on the registry are indexed under Charcot-Marie-Tooth Disease; 37 are open to participants now.
Browse Charcot-Marie-Tooth Disease studies →6 of the 23 studies in Charcot-Marie-Tooth Disease with a site in France are open now. Recruiting first, the newest first:
Hospices Civils de Lyon · Sites in France
Ages 4+
Institut de Myologie, France · Sites in France
Ages 18–65 · Healthy volunteers
Assistance Publique Hopitaux De Marseille · Sites in France
Ages 18+
UGECAM PACA et Corse · Sites in France
Ages 18–65
Assistance Publique - Hôpitaux de Paris · Sites in France
Ages 18+
A study can be open while its sites in France have not opened yet or have stopped. Only those recruiting at a site in France →
Of the 31 Charcot-Marie-Tooth Disease studies recruiting now, 14 (45%) set no upper age limit and 13 (42%) stop at 75 or younger; 14 take children under 18; 13 take healthy volunteers.
This study: 18 Years and older · all sexes · healthy volunteers too.
The full table on the hub →This tab as a report to print or save as PDF → With an account.
23 studies; the count open now beside each. This study's row is marked.
First in 2010; this study’s year is marked. 1 started in 2022.
By drug class, each counting the studies that test any of its medicines:
This study's enrollment of 85 is above the median of 41 across 62 interventional studies indexed under Charcot-Marie-Tooth Disease.
Median enrollment 67 across the 17 interventional studies, 53 across the 6 observational. Of the 12 that completed or were terminated, 3 (25%) have results posted.
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3 of 23 have an industry lead sponsor. The 10 most frequent:
Centre Hospitalier Universitaire de Nice is the lead sponsor of 723 studies on the registry; 176 are open to participants now.
Centre Hospitalier Universitaire de Nice has 2 studies filed under Charcot-Marie-Tooth Disease — fewer than ten, so there is no comparison to draw.
6 of the studies in Charcot-Marie-Tooth Disease with a site in France that are under way reach primary completion within a year, 0 of them phase 3. Phase 3 first, then by date:
| Study | Primary completion |
|---|---|
| NCT07321977Institut de Myologie, FranceAssessment of a Portable Digital Device for Quantified Analysis of Markerless Walking in Volunteers With Neuromuscular Diseases or Asymptomatic Volunteers | 2026-12-31 |
| NCT07591779University Hospital, LimogesPhysical Activity Level at Home in CMT1A Patients: Wearable Sensor Assessment | 2027-04-15 |
| NCT02596191Assistance Publique Hopitaux De MarseilleTools for Therapeutic Evaluation in Charcot-Marie-Tooth Disease Type 1A: Outcome Measures and Biomarkers | 2027-05-05 |
| NCT06845644Assistance Publique Hopitaux De MarseilleLongitudinal Quantitative Neuromuscular MRI in Neuropathic Patients | 2027-05-23 |
| NCT07038239Hospices Civils de LyonGenotype/Phenotype Correlation of MORC2 Mutations | 2027-06 |
Add all 6 to your calendar (.ics) → With an account.
Among the 23 studies in Charcot-Marie-Tooth Disease with a site in France, from their registry updates:
This tab as a report to print or save as PDF → With an account.
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.
Inclusion Criteria for patients:
Inclusion Criteria for Healthy Volunteers:
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
A weakened immune system. It can come from an illness, such as HIV or some blood cancers, or from medicines that turn the immune system down, for example after an organ transplant or for an autoimmune disease; steroids at higher doses count.
Read whether the line is about a condition or about medicines, and which medicines and doses it means.
Anti-inflammatory medicines such as prednisone, prednisolone and dexamethasone — not the anabolic steroids used for muscle.
Studies differ in what they allow: check which steroid medicines, routes (tablets, injections, creams, inhalers, eye drops) and doses this study accepts.
The human immunodeficiency virus, which weakens the immune system.
Many studies now accept people whose HIV is controlled on treatment, judged by the viral load and the CD4 count. Check the limits this study sets.
Hepatitis B is a virus that infects the liver. These are separate tests: HBsAg positive usually means a current infection (a recent vaccination can briefly cause it too); total anti-HBc (HBcAb) positive means an infection now or in the past; HBV DNA measures how much virus is in the blood.
Some studies accept a past infection if HBV DNA is undetectable, sometimes with antiviral medicine during the study. Check what this study allows.
Hepatitis C is a virus that infects the liver. An HCV antibody test can stay positive after an infection has cleared (and is occasionally positive without one); an HCV RNA test shows whether the virus is there now.
After treatment, hepatitis C counts as cured when HCV RNA is still undetectable 12 weeks or more after the treatment ended. Studies often accept people cured this way.
Immunosuppression
A weakened immune system. It can come from an illness, such as HIV or some blood cancers, or from medicines that turn the immune system down, for example after an organ transplant or for an autoimmune disease; steroids at higher doses count.
Read whether the line is about a condition or about medicines, and which medicines and doses it means.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Corticosteroids (steroids)
Anti-inflammatory medicines such as prednisone, prednisolone and dexamethasone — not the anabolic steroids used for muscle.
Studies differ in what they allow: check which steroid medicines, routes (tablets, injections, creams, inhalers, eye drops) and doses this study accepts.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
HIV
The human immunodeficiency virus, which weakens the immune system.
Many studies now accept people whose HIV is controlled on treatment, judged by the viral load and the CD4 count. Check the limits this study sets.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Hepatitis B tests
Hepatitis B is a virus that infects the liver. These are separate tests: HBsAg positive usually means a current infection (a recent vaccination can briefly cause it too); total anti-HBc (HBcAb) positive means an infection now or in the past; HBV DNA measures how much virus is in the blood.
Some studies accept a past infection if HBV DNA is undetectable, sometimes with antiviral medicine during the study. Check what this study allows.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Hepatitis C tests
Hepatitis C is a virus that infects the liver. An HCV antibody test can stay positive after an infection has cleared (and is occasionally positive without one); an HCV RNA test shows whether the virus is there now.
After treatment, hepatitis C counts as cured when HCV RNA is still undetectable 12 weeks or more after the treatment ended. Studies often accept people cured this way.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
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
Blood test and ultrasound
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
Time frame: at inclusion
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)
Time frame: 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.
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
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
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
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).
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
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).
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)
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
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.
The correlation study between structural changes observed in ultrasound and IMAX values will be conducted as indicated in the previous paragraphs.
Time frame: within 2 months after inclusion
Ran from May 2022 to primary completion in Oct 2024, 29 months.
Of 38 non-industry interventional studies with no phase under Charcot-Marie-Tooth Disease, half reached primary completion within 29 months of starting (the median), counting those still running; a quarter within 7 and three quarters within 67. This study's 29 months is close to that.
Counting every sponsor, half of 38 studies reached it within 29 months; a quarter within 7 and three quarters within 67.
How these figures are worked out, and which studies are left out of them.
This study is completed, as verified in Feb 2025. You cannot join it, but the record below documents what was studied.
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Centre Hospitalier Universitaire de Nice →