NCT07038239 Genotype/Phenotype Correlation of MORC2 Mutations
| NCT ID | NCT07038239 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Hospices Civils de Lyon |
| Condition | Charcot Marie Tooth Disease |
| Study Type | OBSERVATIONAL |
| Enrollment | 45 participants |
| Start Date | 2026-06-16 |
| Primary Completion | 2027-06 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 45 participants in total. It began in 2026-06-16 with a primary completion date of 2027-06.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief Summary
The Microrchidia CW-type zinc finger 2 (MORC2) gene encodes a protein expressed in all tissues and enriched in the brain. It is involved in Charcot-Marie-Tooth disease, with mire than 30 families presenting MORC2 mutations. Recently, MORC2 mutation have been shown to be responsible for more complex phenotypes like DIFGAN: developmental delay, impaired growth, dysmorphic facies and axonal neuropathy. Different mutations are responsible from a diverse spectrum of phenotype, from CMT to DIFGAN. MORC2 is involved, through its ATPase activity, in DNA repair, chromatin remodeling and epigenetic silencing via the Human silencing hub (HUSH) complex. Our hypothesis is that the hypo- or hyper-activation of the HUSH complex by different MORC2 mutations could be responsible for different phenotypes in patients. The aim of this study is to perform a genotype-phenotype correlation study in patients presenting MORC2 mutations.
Eligibility 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
Contact & Investigator
Frequently Asked Questions
Who can join the NCT07038239 clinical trial?
This trial is open to participants of all sexes, aged 4 Years or older, studying Charcot Marie Tooth Disease. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT07038239 currently recruiting?
Yes, NCT07038239 is actively recruiting participants. Contact the research team at shams.ribault@chu-lyon.fr for enrollment information.
Where is the NCT07038239 trial being conducted?
This trial is being conducted at Besançon, France, Brest, France, Grenoble, France, Le Chesnay, France and 8 additional locations.
Who is sponsoring the NCT07038239 clinical trial?
NCT07038239 is sponsored by Hospices Civils de Lyon. The trial plans to enroll 45 participants.