Menu
Recruiting NCT07038239

Genotype/Phenotype Correlation of MORC2 Mutations

— Observational Charcot Marie Tooth Disease DIFGAN Developmental Delay (Disorder) Impaired Growth

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
The protocol lists: Skin biopsy, Blood sample.
Who it may be relevant to
Registry conditions: Charcot Marie Tooth Disease, DIFGAN, Developmental Delay (Disorder), Impaired Growth. Basic parameters: from 4 years · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
France
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

Official title

Deciphering MORC2 Genotype/Phenotype Correlation to Improve Patient Diagnostic

Overview

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.

Interventions

  • Diagnostic test Skin biopsy
    under the arm using a 3 mm punch, with local anaesthesia, in the investigating centres.
  • Diagnostic test 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.

Primary outcome measures

  • Epigenetic biomarker levels [Time frame: At inclusion]
Secondary outcome measures (5)
  • RNA-seq [Time frame: At inclusion]
  • Detection and quantification of specific nucleic acid biomarkers in patient's serum [Time frame: At inclusion]
  • Quantification of nucleic acid biomarkers in patient's cerebrospinal fluid [Time frame: At inclusion]
  • Quantification of proteic biomarkers in patient's serum [Time frame: At inclusion]
  • Quantification of proteic biomarkers in patient's cerebrospinal fluid (CSF) [Time frame: At inclusion]

Eligibility criteria

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

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Observational model
Other

Study locations

France · 12 centers
  • CHU de Besançon — Besançon
  • CHRU Brest — Brest
  • CHU Grenoble — Grenoble
  • CH de Versailles — Le Chesnay
  • Service de Génétique moléculaire, pharmacogénétique, hormologie Hôpital Bicêtre — Le Kremlin-Bicêtre
  • Hospices Civils de Lyon — Lyon
  • CHU Marseille — Marseille
  • CHU de Nantes — Nantes
  • … and 4 more centers

Identifiers

NCT: NCT07038239 · 69HCL23_0647 · 2025-A00225-44

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗