Genotype/Phenotype Correlation of MORC2 Mutations (NCT07038239) | Clinical Trial Compass
RecruitingNot Applicable
Genotype/Phenotype Correlation of MORC2 Mutations
France45 participantsStarted 2026-06-16
Plain-language 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.
Who can participate
Age range
4 Years
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
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
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1This trial is studying MORC2 mutations and conditions like Charcot-Marie-Tooth disease, developmental delay, and axonal neuropathy — does my specific diagnosis and genetic test result make this worth discussing as a potential match with my care team?
2Since this study is measuring epigenetic biomarker levels, can you explain what that means in practical terms for me — will it involve blood draws, biopsies, or other tests, and how demanding would participation be on my daily life?
3This trial is listed as 'Phase NA,' which suggests it may be an observational or natural history study rather than a treatment trial — can you help me understand whether it would offer any direct benefit to me, or whether it's mainly contributing to research that might help future patients?
4Given that MORC2 mutations can cause a wide range of symptoms from CMT to the more severe DIFGAN syndrome, would participating in this genotype/phenotype correlation study help my own medical team better understand my specific condition and prognosis?
5Are there standard-of-care options or other studies I should consider alongside or instead of this trial, especially if my priority right now is finding an active treatment rather than contributing to genetic research?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.