Genotype/Phenotype Correlation of MORC2 Mutations
Key facts
- Who runs it
- Hospices Civils de Lyon
- Where
- France12 sites in 1 countryChoose a country to see its sites
- Trial code
- Status
- Recruiting
- People taking part
- 45 people, planned
- Started
- 16 Jun 2026
- Expected to end
- Jun 2027
- Type of study
- Observational, 3 groups
- Treatments tested
- Skin biopsy
- Blood sample
- Record updated
- 18 June 2026
Who can take part
- Age
- 4 years and older
- Sex
- Women and men
- Healthy volunteers
- Cannot take part
The registry criteria, word for word
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Who can take part
- 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
Who cannot take part
- 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
This trial has no sites in United States.
It has sites in one country. Choose a country to see its sites.
About the trial
What the trial wants to find out
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.
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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.
The 3 groups in the trial
- Charcot-Marie-Tooth patients : Patients presenting with length-dependent sensitive-motor axonal neur
Patients presenting with length-dependent sensitive-motor axonal neuropathy
Treatment: Skin biopsy and Blood sample
- DIFGAN patients
Patients presenting with DIFGAN syndrome : developmental delay, impaired growth, dysmorphic facies and axonal neuropathy
Treatment: Skin biopsy and Blood sample
- Control
Control group without any neurological disorder
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Contact the study team: see the registry record → Contacts and Locations
Print a page for my doctorData and sources
- Registry record
- Listed on ClinicalTrials.gov.
- Official title
- Deciphering MORC2 Genotype/Phenotype Correlation to Improve Patient Diagnostic
- Record updated
- 18 June 2026