Informations générales (source: ClinicalTrials.gov)
Deciphering MORC2 Genotype/Phenotype Correlation to Improve Patient Diagnostic (PhenoMORC2)
Observational
Hospices Civils de Lyon (Voir sur ClinicalTrials)
septembre 2025
septembre 2027
08 juillet 2025
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.
Etablissements
| Les établissements d'Île-de-France dont les données sont issues de ClinicalTrials.gov Origine et niveau de fiabilité des données | |||||
|---|---|---|---|---|---|
| AP-HP - Hôpital Necker-Enfants Malades | Cyril Gitiaux, MD | Contact (sur clinicalTrials) | |||
| CH DE VERSAILLES SITE ANDRE MIGNOT | Geoffroy Delplancq, MD | Contact (sur clinicalTrials) | |||
| Les établissements sans correspondance certaine dans le répertoire FINESS dont les données sont issues de ClinicalTrials.gov Origine et niveau de fiabilité des données | |||||
| CH Pitié Salpêtrière - 75013 - Paris - France | Tanya Stojkovic, MD | Contact (sur clinicalTrials) | |||
| CHRU Brest - 29200 - Brest - France | Audebert Bellanger, MD | Contact (sur clinicalTrials) | |||
| CHU de Besançon - 25030 - Besançon - France | Elise Boucher Brischoux, MD | Contact (sur clinicalTrials) | |||
| CHU de Nantes - 44000 - Nantes - France | Marie Vincent, MD | Contact (sur clinicalTrials) | |||
| CHU de Saint-Etienne - 42270 - Saint Etienne - France | Jean-Philippe Camdessanche, MD | Contact (sur clinicalTrials) | |||
| CHU Grenoble - 38700 - Grenoble - France | Martial Mallaret, MD | Contact (sur clinicalTrials) | |||
| CHU Marseille - 13005 - Marseille - France | Nathalie BONELLO, MD | Contact (sur clinicalTrials) | |||
| CHU Strasbourg - 67000 - Strasbourg - France | Aleksandra NADAJ PAKLEZA | Contact (sur clinicalTrials) | |||
| Hospices Civils de Lyon - 69317 - Lyon - France | Shams RIBAULT, MD | Contact (sur clinicalTrials) | |||
| Service de Génétique moléculaire, pharmacogénétique, hormologie Hôpital Bicêtre - 94270 - Le Kremlin-Bicêtre - France | Andoni ECHANIZ-LAGUNA, MD | Contact (sur clinicalTrials) | |||
Critères
Tous
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
- 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
- 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