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RecruitingNCT07038239

Genotype/Phenotype Correlation of MORC2 Mutations

Deciphering MORC2 Genotype/Phenotype Correlation to Improve Patient Diagnostic

Status
Recruiting
Phase
—
Study type
Observational
Enrollment
45 (estimated)
Sponsor
Hospices Civils de Lyon · Academic / Other
Sex
All
Age
4 Years
Healthy volunteers
Not accepted

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

Interventions

TypeNameDescription
DIAGNOSTIC_TESTSkin biopsyunder the arm using a 3 mm punch, with local anaesthesia, in the investigating centres.
DIAGNOSTIC_TESTBlood sample3 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.

Timeline

Start date
2025-09-01
Primary completion
2026-09-01
Completion
2027-09-01
First posted
2025-06-26
Last updated
2025-07-04

Locations

12 sites across 1 country: France

Source: ClinicalTrials.gov record NCT07038239. Inclusion in this directory is not an endorsement.