Gene study aims to decode rare nerve disorder variations

NCT ID NCT07038239

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study looks at how different mutations in the MORC2 gene lead to different symptoms, from Charcot-Marie-Tooth disease to a more complex condition called DIFGAN. Researchers will collect skin and blood samples from 45 participants to measure epigenetic and genetic markers. The goal is to improve diagnosis by linking specific gene changes to patient outcomes.

What this could mean

Our plain-language read of the trial. This is informational only — not medical advice or a prediction.

What this could lead to

If successful, this could help doctors better predict which symptoms a patient with a MORC2 mutation will develop, leading to earlier and more accurate diagnoses.

What could go wrong

This is a small, early-stage observational study (45 participants) focused on understanding the disease, not testing a treatment. It may not lead to immediate changes in patient care.

Disclaimer Read more

This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.

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Conditions

The condition(s) this trial relates to.

Charcot-Marie-Tooth disease developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy developmental disability

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Contacts and locations

Study contacts

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

Locations

  • CH Pitié Salpêtrière

    RECRUITING

    Paris, 75013, France

    Contact Email: •••••@•••••

  • CH de Versailles

    RECRUITING

    Le Chesnay, 78150, France

    Contact Email: •••••@•••••

  • CHRU Brest

    RECRUITING

    Brest, 29200, France

    Contact

  • CHU Grenoble

    RECRUITING

    Grenoble, 38700, France

    Contact Email: •••••@•••••

  • CHU Marseille

    RECRUITING

    Marseille, 13005, France

    Contact

  • CHU Strasbourg

    RECRUITING

    Strasbourg, 67000, France

    Contact

  • CHU de Besançon

    RECRUITING

    Besançon, 25030, France

    Contact Email: •••••@•••••

  • CHU de Nantes

    RECRUITING

    Nantes, 44000, France

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • CHU de Saint-Etienne

    RECRUITING

    Saint-Etienne, 42270, France

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • Hospices Civils de Lyon

    RECRUITING

    Lyon, 69317, France

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • Hôpital Necker

    RECRUITING

    Paris, 75015, France

    Contact Phone: •••-•••-•••• Email: •••••@•••••

  • Service de Génétique moléculaire, pharmacogénétique, hormologie Hôpital Bicêtre

    RECRUITING

    Le Kremlin-Bicêtre, 94270, France

    Contact Phone: •••-•••-••••