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Gene study aims to decode rare nerve disorder variations

NCT ID NCT07038239

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

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

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.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 45 people

The number the study aims to enrol. It can still change while the study runs.

Started

Jun 2026

Expected to finish

Jun 2027

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

This study will focus on children and adults suffering from a MORC2 gene mutation, and presenting a CMT or DIFGAN phenotype.

Ages

4 years and older

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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

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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

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    12 sites. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

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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