Nerve function and structure in CMT, anti‑MAG neuropathy, and CIDP
Official title: Axonal Excitability and Ultrasound Patterns in Charcot-Marie-Tooth Disease and Other Demyelinating Disorders
Run by Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta · NCT07461896 · Data updated 2026-11-12
This project will test nerve‑conduction, axonal‑excitability, skin biopsy, and ultrasound measures in adults with CMT, CIDP, or anti‑MAG neuropathy to see if they better describe nerve function and structure.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 18 Years and up |
| Sex | All |
| Enrollment | 39 (estimated) |
| Sponsor | Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta Academic / other |
| Locations | 1 site (Milan) |
| Status | Recruiting |
| Started | March 3, 2025 |
| Main results expected | May 2027 |
| Study ends | May 2027 |
| Registry record updated | November 5, 2026 |
| Trial ID | NCT07461896 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Adults (age ≥18) with a genetically confirmed CMT subtype or a clinical diagnosis of CIDP or anti‑MAG polyneuropathy are the ideal candidates.
✕Probably not a fit
Patients with neuropathy due to other causes (for example diabetes, chemotherapy, renal disease, or active alcohol abuse), recent cancer, pregnancy or nursing, known systemic diseases predisposing to neuropathy, or other central nervous system diseases are unlikely to benefit from this protocol.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
Researchers will perform conventional nerve‑conduction studies and axonal‑excitability testing using the TRONDF protocol in adults with selected forms of Charcot‑Marie‑Tooth disease and compare findings to patients with chronic inflammatory demyelinating polyneuropathy (CIDP) and anti‑MAG neuropathy. The protocol also includes analysis of nerve fibers from skin biopsy in CMT patients and ultrasound imaging of nerves from the wrist to the axilla and of intrinsic hand muscles. Axonal‑excitability testing uses paired electrical stimuli with varying intensity and a conditioning stimulus of variable duration to probe axonal membrane and ion‑channel behavior. Physiological measures will be correlated with clinical and genetic classifications to explore potential diagnostic and prognostic value.
Why it matters
Potential benefit: If successful, this work could provide better tools to diagnose and monitor hereditary and immune‑mediated neuropathies and help guide treatment decisions.
How similar studies have gone: Preliminary studies of axonal‑excitability and nerve ultrasound have shown promise for revealing ion‑channel dysfunction and structural changes, though combining these modalities across hereditary and dysimmune neuropathies remains relatively novel.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: 1. The subject is ≥ 18 years old. AND: 2. A genetically confirmed diagnosis of one of the several CMT subtypes (i.e., CMT1A, CMT1B, CMTX1, CMT2I/J, CMT4B, CMT4D and CMT4J) OR 3. A clinical diagnosis of either Chronic Inflammatory Demyelinating Polyneuropathy or anti-MAG polyneuropathy Exclusion Criteria: 1. Known neuropathy from another cause (e.g., diabetes, chronic renal insufficiency, medications, alcohol), including previous carpal tunnel syndrome surgery. 2. History of exposure to chemotherapeutic agents (e.g., bortezomib, vincristine, cisplatin, taxol, vedotin/auromycin-conjugated antibodies), or other medications (e.g., disulfuram, thalidomide, voriconizole, chronic colchicine use) that can cause neuropathy, active alcohol abuse. 3. History of cancer, other than skin cancer, within 5 years prior to enrollment. 4. Pregnancy or nursing. 5. Known systemic disease that predisposes to neuropathy. 6. Other central nervous system diseases.
Where it's running
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Fondazione IRCCS Istituto Neurologico Carlo Besta
Milan, Italy Recruiting
Study contacts
- Principal investigator: Davide Pareyson, MD — Fondazione IRCCS Istituto Neurologico Carlo Besta
- Study coordinator: Davide Pareyson, MD
- Email: davide.pareyson@istituto-besta.it
- Phone: + 39 02.2394
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.