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Genotype/Phenotype Correlation of MORC2 Mutations

NCT07038239 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 45

Last updated 2025-07-04

No results posted yet for this study

Summary

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

  • Charcot Marie Tooth Disease
  • DIFGAN
  • Developmental Delay (Disorder)
  • Impaired Growth
  • Dysmorphic Facies and Axonal Neuropathy

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.

Sponsors & Collaborators

  • Hospices Civils de Lyon

    lead OTHER

Eligibility

Min Age
4 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2025-09-30
Primary Completion
2026-09-30
Completion
2027-09-30

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT07038239 on ClinicalTrials.gov