Actively Recruiting
Genotype/Phenotype Correlation of MORC2 Mutations
Led by Hospices Civils de Lyon · Updated on 2025-07-04
45
Participants Needed
12
Research Sites
104 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Genotype/Phenotype Correlation of MORC2 Mutations
Who Can Participate
Eligibility Criteria
You may qualify if you...
- 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
You will not qualify if you...
- 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
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 12 locations
1
CHU de Besançon
Besançon, France, 25030
Actively Recruiting
2
CHRU Brest
Brest, France, 29200
Actively Recruiting
3
CHU Grenoble
Grenoble, France, 38700
Actively Recruiting
4
CH de Versailles
Le Chesnay, France, 78150
Actively Recruiting
5
Service de Génétique moléculaire, pharmacogénétique, hormologie Hôpital Bicêtre
Le Kremlin-Bicêtre, France, 94270
Actively Recruiting
6
Hospices Civils de Lyon
Lyon, France, 69317
Actively Recruiting
7
CHU Marseille
Marseille, France, 13005
Actively Recruiting
8
CHU de Nantes
Nantes, France, 44000
Actively Recruiting
9
CH Pitié Salpêtrière
Paris, France, 75013
Actively Recruiting
10
Hôpital Necker
Paris, France, 75015
Actively Recruiting
11
CHU de Saint-Etienne
Saint-Etienne, France, 42270
Actively Recruiting
12
CHU Strasbourg
Strasbourg, France, 67000
Actively Recruiting
Research Team
S
Shams RIBAULT, MD
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
3
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