Genotype/Phenotype Correlation of MORC2 Mutations
Recruiting
Observational Study
Charcot Marie Tooth Disease
DIFGAN
Developmental Delay (Disorder)
Impaired Growth
Dysmorphic Facies and Axonal Neuropathy
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Age
- 4 and older
- Sex
- Any
- Study type
- Observational
- Participants needed
- 45 (estimated)
- Sponsor
- Hospices Civils de Lyon · Other
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About This Trial
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 neuropath…
Trial Locations
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Eligibility Criteria
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 s…
Contacts