MORC2 gene changes and how they relate to nerve and developmental symptoms
Deciphering MORC2 Genotype/Phenotype Correlation to Improve Patient Diagnostic
This project will try to see if specific changes in the MORC2 gene explain why some people develop Charcot–Marie–Tooth nerve problems while others have broader developmental delays, growth impairment, facial differences, and neuropathy.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 45 (estimated) |
| Ages | 4 Years and up |
| Sex | All |
| Sponsor | Hospices Civils de Lyon Academic / other |
| Locations | 12 sites (Besançon and 11 other locations) |
| Trial ID | NCT07038239 on ClinicalTrials.gov |
What this trial studies
This is an observational genotype–phenotype correlation project enrolling people with confirmed MORC2 mutations. Participants undergo clinical evaluation, electromyography (EMG) as available, and provide blood and skin biopsy samples for molecular studies. Investigators will compare clinical presentations across different MORC2 variants and examine how those variants affect MORC2-related functions such as ATPase activity and HUSH-complex–mediated chromatin silencing. The goal is to link specific genetic changes to the spectrum from isolated peripheral neuropathy to the broader DIFGAN phenotype.
Who should consider this trial
Good fit: People of any age who have a confirmed MORC2 mutation, can provide informed consent (or have guardian consent), and have undergone or can undergo EMG and biological sample collection are the intended participants.
Not a fit: Patients who lack a MORC2 mutation, have another identified genetic cause, refuse sample collection, or fall under the regulatory exclusions (for example pregnancy or legal deprivation of liberty) will not be eligible and are unlikely to benefit from this project.
Why it matters
Potential benefit: If successful, the findings could help clinicians predict prognosis and personalize monitoring for people with MORC2 mutations and point to molecular pathways for future therapies.
How similar studies have performed: Over 30 families with MORC2 mutations have been reported linking the gene to CMT and to broader DIFGAN presentations, but detailed genotype–phenotype mapping and mechanistic links via HUSH activity remain incompletely defined.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Presence of a mutation in the MORC2 gene, identified during an evaluation for peripheral neuropathy or intellectual disability * Patient has undergone electromyography (EMG) or is able to undergo EMG during the inclusion visit * Affiliation with the national health insurance system * Informed consent from the patient if an adult, or from parents/legal guardians if the patient is a minor Exclusion Criteria: * Presence of another mutation responsible for peripheral neuropathy or intellectual disability * Refusal to undergo biological sample collection * Regulatory exclusion criteria: * Pregnant, postpartum, or breastfeeding women * Individuals deprived of liberty by judicial or administrative decision * Individuals not affiliated with a social security system or not benefiting from an equivalent health coverage scheme
Where this trial is running
Besançon and 11 other locations
- CHU de Besançon — Besançon, France (Recruiting)
- CHRU Brest — Brest, France (Recruiting)
- CHU Grenoble — Grenoble, France (Recruiting)
- CH de Versailles — Le Chesnay, France (Recruiting)
- Service de Génétique moléculaire, pharmacogénétique, hormologie Hôpital Bicêtre — Le Kremlin-Bicêtre, France (Recruiting)
- Hospices Civils de Lyon — Lyon, France (Recruiting)
- CHU Marseille — Marseille, France (Recruiting)
- CHU de Nantes — Nantes, France (Recruiting)
- CH Pitié Salpêtrière — Paris, France (Recruiting)
- Hôpital Necker — Paris, France (Recruiting)
- CHU de Saint-Etienne — Saint-Etienne, France (Recruiting)
- CHU Strasbourg — Strasbourg, France (Recruiting)
Study contacts
- Study coordinator: Shams RIBAULT, MD
- Email: shams.ribault@chu-lyon.fr
- Phone: 00334 72 07 25 73
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.