Charcot Marie Tooth DiseasePhenoMORC2NCT07038239
Genotype/Phenotype Correlation of MORC2 Mutations
An observational study of Charcot Marie Tooth Disease and DIFGAN, run by Hospices Civils de Lyon at 12 sites in France.
Trial summary
The Microrchidia CW-type zinc finger 2 (MORC2) gene encodes a protein expressed in all tissues and enriched in the brain. It is involved in Charcot-Marie-Tooth disease, with mire than 30 families presenting MORC2 mutations. Read more about this study
- Who is it for?
- Ages 4 years and older
- Conditions the study is for
- Charcot Marie Tooth Disease, DIFGAN, Developmental Delay (Disorder)
- What is being tested?
- Skin biopsy and Blood sample
- How many people
- 45 participants
- Where
- 12 sitesFrance
- Study dates
- 16 Jun 2026to Jun 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 4 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: This study will focus on children and adults suffering from a MORC2 gene mutation, and presenting a CMT or DIFGAN phenotype.
Who may be able to join
- 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
Who cannot join
- 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
Trial locations and contacts
12 sites in 1 country. Contact the study team or a site near you to ask about taking part.
12 sites in 1 country
France12 sites, 12 recruiting
- Recruiting
CHU de Besançon
Besançon, 25030
Elise Boucher Brischoux, MD, ebrischouxboucher@chu-besancon.fr
- Recruiting
CHRU Brest
Brest, 29200
Audebert Bellanger, MD
- Recruiting
CHU Grenoble
Grenoble, 38700
Martial Mallaret, MD, MMallaret1@chu-grenoble.fr
- Recruiting
CH de Versailles
Le Chesnay, 78150
Geoffroy Delplancq, MD, gdelplancq@ch-versailles.fr
- Recruiting
Service de Génétique moléculaire, pharmacogénétique, hormologie Hôpital Bicêtre
Le Kremlin-Bicêtre, 94270
Andoni ECHANIZ-LAGUNA, MD, 0033145212121
- Recruiting
Hospices Civils de Lyon
Lyon, 69317
Shams RIBAULT, MD, 00334 72 07 25 73, shams.ribault@chu-lyon.fr
- Recruiting
CHU Marseille
Marseille, 13005
Nathalie BONELLO, MD
- Recruiting
CHU de Nantes
Nantes, 44000
Marie Vincent, MD, 00332 40 08 32 45, marie.vincent@chu-nantes.fr
- Recruiting
CH Pitié Salpêtrière
Paris, 75013
Tanya Stojkovic, MD, tanya.stojkovic@aphp.fr
- Recruiting
Hôpital Necker
Paris, 75015
Cyril Gitiaux, MD, 00331 49 57 43 44, cyril.gitiaux@aphp.fr
- Recruiting
CHU de Saint-Etienne
Saint-Etienne, 42270
Jean-Philippe Camdessanche, MD, 0033477127805, j.philippe.camdessanche@chu-st-etienne.fr
- Recruiting
CHU Strasbourg
Strasbourg, 67000
Aleksandra NADAJ PAKLEZA
About this study
Official title: Deciphering MORC2 Genotype/Phenotype Correlation to Improve Patient Diagnostic
The Microrchidia CW-type zinc finger 2 (MORC2) gene encodes a protein expressed in all tissues and enriched in the brain. It is involved in Charcot-Marie-Tooth disease, with mire than 30 families presenting MORC2 mutations. Recently, MORC2 mutation have been shown to be responsible for more complex phenotypes like DIFGAN: developmental delay, impaired growth, dysmorphic facies and axonal neuropathy.
Different mutations are responsible from a diverse spectrum of phenotype, from CMT to DIFGAN.
MORC2 is involved, through its ATPase activity, in DNA repair, chromatin remodeling and epigenetic silencing via the Human silencing hub (HUSH) complex. Our hypothesis is that the hypo- or hyper-activation of the HUSH complex by different MORC2 mutations could be responsible for different phenotypes in patients. The aim of this study is to perform a genotype-phenotype correlation study in patients presenting MORC2 mutations.
- Conditions
- Charcot Marie Tooth Disease, DIFGAN, Developmental Delay (Disorder), Impaired Growth, Dysmorphic Facies and Axonal Neuropathy
- Being tested
- Skin biopsy, Blood sample
- Keywords
- Charcot-Marie-Tooth, DIFGAN, Human silencing hub complex, genotype-phenotype correlation, MORC2, DNA dalage repair, transcriptional modulation, EPIGENETIC
- Medical subject headings
- Charcot-Marie-Tooth Disease, Developmental Disabilities
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Skin biopsyDiagnostic test
under the arm using a 3 mm punch, with local anaesthesia, in the investigating centres.
Blood sampleDiagnostic test
3 classical 4ml tubes samples per patients, using the routine blood sampling technique, in the investigating centres.
For children, blood sampling volume will be adapted to the patient's weight according to L.1121-1 of the French public health code.
| Study group | Role | What they receive |
|---|---|---|
| Charcot-Marie-Tooth patients : Patients presenting with length-dependent sensitive-motor axonal neur | Patients presenting with length-dependent sensitive-motor axonal neuropathy Receives: Diagnostic Test: Skin biopsy; Diagnostic Test: Blood sample | |
| DIFGAN patients | Patients presenting with DIFGAN syndrome : developmental delay, impaired growth, dysmorphic facies and axonal neuropathy Receives: Diagnostic Test: Skin biopsy; Diagnostic Test: Blood sample | |
| Control | Control group without any neurological disorder |
What is being measured
The primary outcome is the main question the study is designed to answer.
Epigenetic biomarker levels
Quantification of epigenetic biomarkers in patient and control-derived cells (number of reads in patients vs controls)
Measured: At inclusion
Secondary outcomes (5)
RNA-seq
quantification of specific mRNA sequences in patient-derived cells (RNA copy number in patient vs control)
Measured: At inclusion
Detection and quantification of specific nucleic acid biomarkers in patient's serum
Quantification of nucleic acid biomarkers in the patient's serum (number of reads in patients vs control)
Measured: At inclusion
Quantification of nucleic acid biomarkers in patient's cerebrospinal fluid
Quantification of nucleic acid biomarkers in the patient's cerebrospinal fluid (CSF) (number of reads in patients vs control)
Measured: At inclusion
Quantification of proteic biomarkers in patient's serum
Quantification of proteic biomarkers in the patient's serum (µg/mL)
Measured: At inclusion
Quantification of proteic biomarkers in patient's cerebrospinal fluid (CSF)
Quantification of proteic biomarkers in the patient's cerebrospinal fluid (CSF)(µg/mL)
Measured: At inclusion
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Jun 2025
- Study start16 Jun 2026
- Primary completionJun 2027 (estimated)
- Study completionJun 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Charcot Marie Tooth DiseaseStudies of the same condition, open and under way.
- More trials run by Hospices Civils de LyonThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Prospective
- Enrolment
- 45 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Hospices Civils de Lyon
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07038239
- Sponsor's protocol ID
- 69HCL23_0647
- Other IDs
- 2025-A00225-44
- Acronym
- PhenoMORC2
- Status last verified
- Jun 2026
- First submitted
- 27 May 2025
- Last updated
- 18 Jun 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 18 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Deciphering MORC2 Genotype/Phenotype Correlation to Improve Patient Diagnostic
- ClinicalTrials.gov ID
- NCT07038239
- Acronym / sponsor ID
- PhenoMORC2 / 69HCL23_0647
- Conditions
- Charcot Marie Tooth Disease, DIFGAN, Developmental Delay (Disorder), Impaired Growth, Dysmorphic Facies and Axonal Neuropathy
- Keywords
- Charcot-Marie-Tooth, DIFGAN, Human silencing hub complex, genotype-phenotype correlation, MORC2, DNA dalage repair, transcriptional modulation, EPIGENETIC
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 45 participants (estimated)
- Lead sponsor
- Hospices Civils de LyonUniversity, hospital or other
- Study start
- 16 Jun 2026 (actual)
- Primary completion
- Jun 2027 (estimated)
- Study completion
- Jun 2027 (estimated)
- First posted
- 26 Jun 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The Microrchidia CW-type zinc finger 2 (MORC2) gene encodes a protein expressed in all tissues and enriched in the brain. It is involved in Charcot-Marie-Tooth disease, with mire than 30 families presenting MORC2 mutations. Recently, MORC2 mutation have been shown to be responsible for more complex phenotypes like DIFGAN: developmental delay, impaired growth, dysmorphic facies and axonal neuropathy.
Different mutations are responsible from a diverse spectrum of phenotype, from CMT to DIFGAN.
MORC2 is involved, through its ATPase activity, in DNA repair, chromatin remodeling and epigenetic silencing via the Human silencing hub (HUSH) complex. Our hypothesis is that the hypo- or hyper-activation of the HUSH complex by different MORC2 mutations could be responsible for different phenotypes in patients. The aim of this study is to perform a genotype-phenotype correlation study in patients presenting MORC2 mutations.
Study design
- Observational model
- Other
- Time perspective
- Prospective
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Charcot-Marie-Tooth patients : Patients presenting with length-dependent sensitive-motor axonal neur | – | Diagnostic Test: Skin biopsy, Diagnostic Test: Blood samplePatients presenting with length-dependent sensitive-motor axonal neuropathy |
| DIFGAN patients | – | Diagnostic Test: Skin biopsy, Diagnostic Test: Blood samplePatients presenting with DIFGAN syndrome : developmental delay, impaired growth, dysmorphic facies and axonal neuropathy |
| Control | – | –Control group without any neurological disorder |
Who may qualify
- Ages
- 4 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- This study will focus on children and adults suffering from a MORC2 gene mutation, and presenting a CMT or DIFGAN phenotype.
Key inclusion criteria (4 listed)
- 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
Key exclusion criteria (6 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Skin biopsyunder the arm using a 3 mm punch, with local anaesthesia, in the investigating centres. | Diagnostic test | Charcot-Marie-Tooth patients : Patients presenting with length-dependent sensitive-motor axonal neur, DIFGAN patients |
| Blood sample3 classical 4ml tubes samples per patients, using the routine blood sampling technique, in the investigating centres. For children, blood sampling volume will be adapted to the patient's weight according to L.1121-1 of the French public health code. | Diagnostic test | Charcot-Marie-Tooth patients : Patients presenting with length-dependent sensitive-motor axonal neur, DIFGAN patients |
Primary outcome
Epigenetic biomarker levels
Time frame: At inclusion
Quantification of epigenetic biomarkers in patient and control-derived cells (number of reads in patients vs controls)
5 secondary outcomes
RNA-seq
Time frame: At inclusion
Detection and quantification of specific nucleic acid biomarkers in patient's serum
Time frame: At inclusion
Quantification of nucleic acid biomarkers in patient's cerebrospinal fluid
Time frame: At inclusion
Quantification of proteic biomarkers in patient's serum
Time frame: At inclusion
Quantification of proteic biomarkers in patient's cerebrospinal fluid (CSF)
Time frame: At inclusion
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 18 Jun 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
12 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Charcot Marie Tooth Disease and DIFGAN, run by Hospices Civils de Lyon at 12 sites in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 6 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 18 Jun 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 12 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Shams RIBAULT, MD (00334 72 07 25 73, shams.ribault@chu-lyon.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Epigenetic biomarker levels (time frame: At inclusion). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 18 Jun 2026.