An observational study in Charcot Marie Tooth Disease, DIFGAN and Developmental Delay (Disorder), sponsored by Hospices Civils de Lyon. Recruiting at 12 sites in France. Open to participants aged 4 Years and older. Per ClinicalTrials.gov, last updated 2026-06-18.
Sponsored by Hospices Civils de Lyon · Observational
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.
113 studies on the registry are indexed under Charcot-Marie-Tooth Disease; 38 are open to participants now.
This study's planned enrollment of 45 is below the median of 120 across 47 observational studies indexed under Charcot-Marie-Tooth Disease.
Browse Charcot-Marie-Tooth Disease studies →Hospices Civils de Lyon is the lead sponsor of 1,866 studies on the registry; 448 are open to participants now.
Counted across the registry records on this site, refreshed daily.
This study will focus on children and adults suffering from a MORC2 gene mutation, and presenting a CMT or DIFGAN phenotype.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Patients presenting with length-dependent sensitive-motor axonal neuropathy
Diagnostic Test: Skin biopsy · Diagnostic Test: Blood sample
Patients presenting with DIFGAN syndrome : developmental delay, impaired growth, dysmorphic facies and axonal neuropathy
Diagnostic Test: Skin biopsy · Diagnostic Test: Blood sample
Control group without any neurological disorder
under the arm using a 3 mm punch, with local anaesthesia, in the investigating centres.
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.
Epigenetic biomarker levels
Quantification of epigenetic biomarkers in patient and control-derived cells (number of reads in patients vs controls)
Time frame: At inclusion
RNA-seq
quantification of specific mRNA sequences in patient-derived cells (RNA copy number in patient vs control)
Time frame: 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)
Time frame: 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)
Time frame: At inclusion
Quantification of proteic biomarkers in patient's serum
Quantification of proteic biomarkers in the patient's serum (µg/mL)
Time frame: 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)
Time frame: At inclusion
Plan to share: No
No publications or documents are linked to this record.
Started Jun 2026 (actual). Primary completion is estimated for Jun 2027, 12 months after the start.
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