Gene study aims to decode rare nerve disorder variations

NCT ID NCT07038239

Recruiting now Knowledge-focused Sponsor: Hospices Civils de Lyon Source: ClinicalTrials.gov ↗

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.

This is an AI summary of the original study and may miss details. Read our disclaimer.

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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.

CHARCOT-MARIE-TOOTH DISEASE DEVELOPMENTAL DELAY (DISORDER) DIFGAN DYSMORPHIC FACIES AND AXONAL NEUROPATHY IMPAIRED GROWTH

Contacts and locations

Locations

CH Pitié Salpêtrière
RECRUITING

Paris, 75013, France
CH de Versailles
RECRUITING

Le Chesnay, 78150, France
CHRU Brest
RECRUITING

Brest, 29200, France
CHU Grenoble
RECRUITING

Grenoble, 38700, France
CHU Marseille
RECRUITING

Marseille, 13005, France
CHU Strasbourg
RECRUITING

Strasbourg, 67000, France
CHU de Besançon
RECRUITING

Besançon, 25030, France
CHU de Nantes
RECRUITING

Nantes, 44000, France
CHU de Saint-Etienne
RECRUITING

Saint-Etienne, 42270, France
Hospices Civils de Lyon
RECRUITING

Lyon, 69317, France
Hôpital Necker
RECRUITING

Paris, 75015, France
Service de Génétique moléculaire, pharmacogénétique, hormologie Hôpital Bicêtre
RECRUITING

Le Kremlin-Bicêtre, 94270, France

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