Clinical trials: DIFGAN
Charcot Marie Tooth Disease, DIFGAN
Genotype/Phenotype Correlation of MORC2 Mutations
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.
- Conditions
- Charcot Marie Tooth Disease, DIFGAN, Developmental Delay (Disorder), Impaired Growth
- Trial name
- PhenoMORC2 (NCT07038239)
- Testing
- Skin biopsy, Blood sample
- Where
- 12 sites in France
- Volunteers
- 45 people
- Sponsor
- Hospices Civils de Lyon