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NCT Number: NCT07038239

Genotype/Phenotype Correlation of MORC2 Mutations

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.

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Key information

Conditions

Charcot Marie Tooth Disease Charcot-Marie-Tooth Disease Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities DIFGAN Developmental Delay (Disorder) Developmental Disabilities Dysmorphic Facies and Axonal Neuropathy Genetic Diseases, Inborn Hereditary Sensory and Motor Neuropathy Heredodegenerative Disorders, Nervous System Impaired Growth Mental Disorders Nervous System Diseases Nervous System Malformations Neurodegenerative Diseases Neurodevelopmental Disorders Neuromuscular Diseases Peripheral Nervous System Diseases Polyneuropathies

Age range

4 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

CHU de Besançon, Besançon, France

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Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Skin Biopsy

Diagnostic Test

under the arm using a 3 mm punch, with local anaesthesia, in the investigating centres.

Blood sample

Diagnostic Test

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 outcomes

  1. Epigenetic biomarker levels

    Time frame: At inclusion

    Quantification of epigenetic biomarkers in patient and control-derived cells (number of reads in patients vs controls)

Secondary outcomes

  1. RNA-seq

    Time frame: At inclusion

    quantification of specific mRNA sequences in patient-derived cells (RNA copy number in patient vs control)

  2. Detection and quantification of specific nucleic acid biomarkers in patient's serum

    Time frame: At inclusion

    Quantification of nucleic acid biomarkers in the patient's serum (number of reads in patients vs control)

  3. Quantification of nucleic acid biomarkers in patient's cerebrospinal fluid

    Time frame: At inclusion

    Quantification of nucleic acid biomarkers in the patient's cerebrospinal fluid (CSF) (number of reads in patients vs control)

  4. Quantification of proteic biomarkers in patient's serum

    Time frame: At inclusion

    Quantification of proteic biomarkers in the patient's serum (µg/mL)

  5. Quantification of proteic biomarkers in patient's cerebrospinal fluid (CSF)

    Time frame: At inclusion

    Quantification of proteic biomarkers in the patient's cerebrospinal fluid (CSF)(µg/mL)

Study contacts

Contact information is provided by the study sponsor or research team.

Shams RIBAULT, MD

CONTACT

[email protected]

00334 72 07 25 73

Sponsors and collaborators

Lead sponsor

Hospices Civils de Lyon

Other

Registry information

Official study title

Deciphering MORC2 Genotype/Phenotype Correlation to Improve Patient Diagnostic

Acronym: PhenoMORC2

Important dates

Study start
2026
Primary completion
2027
Study completion
2027
First posted
Jun 26, 2025
Registry last updated
Jun 18, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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