MORC2 gene changes and how they relate to nerve and developmental symptoms

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This is an observational genotype–phenotype correlation project enrolling people with confirmed MORC2 mutations. Participants undergo clinical evaluation, electromyography (EMG) as available, and provide blood and skin biopsy samples for molecular studies. Investigators will compare clinical presentations across different MORC2 variants and examine how those variants affect MORC2-related functions such as ATPase activity and HUSH-complex–mediated chromatin silencing. The goal is to link specific genetic changes to the spectrum from isolated peripheral neuropathy to the broader DIFGAN phenotype.

Why it matters

Who can join: the full rules

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

Where it's running

• CHU de Besançon
  Besançon, France Recruiting
• CHRU Brest
  Brest, France Recruiting
• CHU Grenoble
  Grenoble, France Recruiting
• CH de Versailles
  Le Chesnay, France Recruiting
• Service de Génétique moléculaire, pharmacogénétique, hormologie Hôpital Bicêtre
  Le Kremlin-Bicêtre, France Recruiting
• Hospices Civils de Lyon
  Lyon, France Recruiting

Study contacts

• Study coordinator: Shams RIBAULT, MD
• Email: shams.ribault@chu-lyon.fr
• Phone: 00334 72 07 25 73

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.