Genotype/Phenotype Correlation of MORC2 Mutations

Launched by HOSPICES CIVILS DE LYON · Jun 17, 2025

Keywords

ClinConnect Summary

This clinical trial is studying how different changes (mutations) in a gene called MORC2 affect people’s health. The MORC2 gene makes a protein that is important for brain function and nerve health. Changes in this gene can cause a range of conditions, including Charcot-Marie-Tooth disease (a nerve disorder), developmental delays, growth problems, distinctive facial features, and nerve damage. Researchers want to better understand how specific gene changes relate to these different symptoms by looking closely at the genetic information and health characteristics of patients.

People who might be eligible for this study are those who have already been found to have a mutation in the MORC2 gene and have had or can have a test called electromyography (EMG), which checks how well their nerves and muscles work. Participants must have health insurance and give consent to join the study, or if they are children, their parents or guardians must consent. The study is not yet recruiting, but if eligible, participants can expect to provide biological samples and undergo assessments to help researchers learn more about how MORC2 mutations affect the body. This information could help improve diagnosis and care for people with these rare genetic conditions.

Gender

ALL

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