Understanding how MORC2 gene mutations cause different nerve diseases

Plain-English translation of NCT07038239 on ClinicalTrials.gov ↗ · Source last updated June 2026 · Translation generated June 2026 · How we translate trials

What is this trial?

Researchers are trying to understand why mutations in a gene called MORC2 cause different nerve diseases in different people. Some patients develop Charcot-Marie-Tooth disease (a condition affecting nerves in the feet and legs), while others develop a more complex condition called DIFGAN that involves developmental delays, growth problems, and facial differences along with nerve damage. This study will collect medical information and blood samples from people with MORC2 mutations to figure out what determines which type of disease develops.

Scientists know that MORC2 mutations cause nerve problems, but they don't yet understand why the same genetic mutation produces different diseases in different patients. By studying many patients with different MORC2 mutations side-by-side, researchers hope to discover the patterns that explain these differences and eventually help doctors predict and better treat these conditions.

Do you qualify?

You likely qualify if…

you have been diagnosed with a MORC2 gene mutation found during testing for nerve problems or developmental delay
you have had or are willing to have an electromyography test (a test that measures electrical activity in muscles and nerves)
you are enrolled in your country's national health insurance system
you are able to provide informed consent, or if you are a minor, your parents or legal guardians can provide consent

You likely don't qualify if…

you have another gene mutation known to cause nerve problems or developmental delay
you are unwilling to provide a blood or biological sample
you are currently pregnant, breastfeeding, or recently gave birth
you are not enrolled in a national health insurance system or equivalent coverage

What participation looks like

If you join this study, you will meet with researchers who will review your medical history and any nerve testing you've already had done. You'll be asked to provide a blood sample, which researchers will use to study your MORC2 mutation in detail. The study compares information from three groups: people with Charcot-Marie-Tooth disease, people with DIFGAN, and people without nerve disease, to identify patterns that explain how the same gene mutation causes different outcomes.

AI-generated summary from trial data · Jun 19, 2026 · Not medical advice

Trial locations(12 sites)

France

CHU de Besançon, Besançon

CHRU Brest, Brest

CHU Grenoble, Grenoble

CH de Versailles, Le Chesnay

Service de Génétique moléculaire, pharmacogénétique, hormologie Hôpital Bicêtre, Le Kremlin-Bicêtre