Quantitative neuromuscular MRI to track muscle fat in demyelinating and hereditary neuropathies
Longitudinal Quantitative Neuromuscular MRI Evaluation in Patients With Acquired and Hereditary Neuropathy
This project uses MRI and ultrasound to measure muscle fat and other imaging markers in adults with inherited or acquired demyelinating neuropathies to see if the scans can track disease changes over time.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 120 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | Assistance Publique Hopitaux De Marseille Academic / other |
| Locations | 1 site (Marseille) |
| Trial ID | NCT06845644 on ClinicalTrials.gov |
What this trial studies
Adults with Charcot–Marie–Tooth type 1A, hereditary transthyretin amyloid neuropathy, or acquired demyelinating neuropathies will undergo quantitative neuromuscular MRI and neuromuscular ultrasound at baseline and at scheduled follow-up visits to measure intramuscular fat fraction and other imaging biomarkers. MRI provides three-dimensional, non‑ionizing differentiation between muscle and fat, enabling objective in vivo measurement of structural changes that complement clinical and electrophysiological scores. The protocol standardizes image acquisition and quantitative analysis to compare biomarker trajectories across neuropathy types and over time. Results are intended to support imaging endpoints for monitoring progression or response in future therapeutic studies.
Who should consider this trial
Good fit: Ideal candidates are adults aged 18–80 with genetically confirmed CMT1A or transthyretin mutations, or with a typical acquired demyelinating neuropathy (e.g., CIDP or anti‑MAG), who can tolerate MRI, have given informed consent, and are covered by a social security scheme.
Not a fit: Patients with other coexisting peripheral neuropathies, active alcohol or substance abuse, contraindications to MRI (for example pacemakers, certain metal implants, or severe claustrophobia), or who cannot undergo MRI due to severe disability are unlikely to benefit from participation.
Why it matters
Potential benefit: If successful, this could provide reliable imaging biomarkers to track disease progression and help guide or measure responses to therapies in neuropathy patients.
How similar studies have performed: Quantitative neuromuscular MRI has shown promise and utility in several neuromuscular disorders as a biomarker, though longitudinal data specifically in these demyelinating and hereditary neuropathies remain relatively limited.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Male or female between 18 and 80 years of age, * Patients who have freely given their consent to participate in this study, * Patient with genetically confirmed hereditary CMT neuropathy * or patient with an acquired demyelinating neuropathy such as typical PIDC or anti-MAG of typical form * or a patient with a genetically confirmed pathogenic mutation in the transthyretin (TTRn) gene, * Patients who are beneficiaries or entitled beneficiaries of a social security scheme. Exclusion Criteria: * Patients with co-morbidity or a history of other peripheral neuropathy, * Patients with alcohol or psychoactive substance abuse, * Patients with contraindications to MRI exploration: claustrophobia, pacemakers, Holter systems, IUDs, metal surgical clips, metal prostheses or implants (or other metal foreign bodies), * Patient unable to perform the MRI due to severe handicap, * Patient in a period of exclusion from another research protocol at the time of signing the consent/non-opposition form, * Subjects covered by articles L1121-5 to 1121-8 of the French Public Health Code (minors, adults under guardianship or trusteeship, patients deprived of their liberty, pregnant or breast-feeding women), * Persons who cannot read and understand the French language well enough to be able to give their consent to participate in research.
Where this trial is running
Marseille
- Assistance - Publique Hôpitaux de Marseille — Marseille, France (Recruiting)
Study contacts
- Study coordinator: Etienne FORTANIER, MD
- Email: etienne.fortanier@ap-hm.fr
- Phone: 04 91 38 65 79
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.