Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
45 participants
OBSERVATIONAL
2025-09-30
2027-09-30
Brief Summary
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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.
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Detailed Description
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Conditions
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Study Design
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OTHER
PROSPECTIVE
Study Groups
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Charcot-Marie-Tooth patients : Patients presenting with length-dependent sensitive-motor axonal neur
Patients presenting with length-dependent sensitive-motor axonal neuropathy
Skin biopsy
under the arm using a 3 mm punch, with local anaesthesia, in the investigating centres.
Blood sample
3 classical 4ml tubes samples per patients, using the routine blood sampling technique, in the investigating centres.
For children, blood sampling volume will be adapted to the patient's weight according to L.1121-1 of the French public health code.
DIFGAN patients
Patients presenting with DIFGAN syndrome : developmental delay, impaired growth, dysmorphic facies and axonal neuropathy
Skin biopsy
under the arm using a 3 mm punch, with local anaesthesia, in the investigating centres.
Blood sample
3 classical 4ml tubes samples per patients, using the routine blood sampling technique, in the investigating centres.
For children, blood sampling volume will be adapted to the patient's weight according to L.1121-1 of the French public health code.
Control
Control group without any neurological disorder
No interventions assigned to this group
Interventions
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Skin biopsy
under the arm using a 3 mm punch, with local anaesthesia, in the investigating centres.
Blood sample
3 classical 4ml tubes samples per patients, using the routine blood sampling technique, in the investigating centres.
For children, blood sampling volume will be adapted to the patient's weight according to L.1121-1 of the French public health code.
Eligibility Criteria
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Inclusion Criteria
* 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
* Refusal to undergo biological sample collection
* 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
4 Years
ALL
No
Sponsors
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Hospices Civils de Lyon
OTHER
Responsible Party
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Locations
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CHU de Besançon
Besançon, , France
CHRU Brest
Brest, , France
CHU Grenoble
Grenoble, , France
CH de Versailles
Le Chesnay, , France
Service de Génétique moléculaire, pharmacogénétique, hormologie Hôpital Bicêtre
Le Kremlin-Bicêtre, , France
Hospices Civils de Lyon
Lyon, , France
CHU Marseille
Marseille, , France
CHU de Nantes
Nantes, , France
CH Pitié Salpêtrière
Paris, , France
Hôpital Necker
Paris, , France
CHU de Saint-Etienne
Saint-Etienne, , France
CHU Strasbourg
Strasbourg, , France
Countries
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Central Contacts
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Facility Contacts
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Audebert Bellanger, MD
Role: primary
Andoni ECHANIZ-LAGUNA, MD
Role: primary
Nathalie BONELLO, MD
Role: primary
Aleksandra NADAJ PAKLEZA
Role: primary
Other Identifiers
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2025-A00225-44
Identifier Type: OTHER
Identifier Source: secondary_id
69HCL23_0647
Identifier Type: -
Identifier Source: org_study_id
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