Genotype/Phenotype Correlation of MORC2 Mutations

RecruitingOBSERVATIONAL
Enrollment

45

Participants

Timeline

Start Date

September 30, 2025

Primary Completion Date

September 30, 2026

Study Completion Date

September 30, 2027

Conditions
Charcot Marie Tooth DiseaseDIFGANDevelopmental Delay (Disorder)Impaired GrowthDysmorphic Facies and Axonal Neuropathy
Interventions
DIAGNOSTIC_TEST

Skin biopsy

under the arm using a 3 mm punch, with local anaesthesia, in the investigating centres.

DIAGNOSTIC_TEST

Blood sample

"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."

Trial Locations (12)

13005

RECRUITING

CHU Marseille, Marseille

25030

RECRUITING

CHU de Besançon, Besançon

29200

RECRUITING

CHRU Brest, Brest

38700

RECRUITING

CHU Grenoble, Grenoble

42270

RECRUITING

CHU de Saint-Etienne, Saint-Etienne

44000

RECRUITING

CHU de Nantes, Nantes

67000

RECRUITING

CHU Strasbourg, Strasbourg

69317

RECRUITING

Hospices Civils de Lyon, Lyon

75013

RECRUITING

CH Pitié Salpêtrière, Paris

75015

RECRUITING

Hôpital Necker, Paris

78150

RECRUITING

CH de Versailles, Le Chesnay

94270

RECRUITING

Service de Génétique moléculaire, pharmacogénétique, hormologie Hôpital Bicêtre, Le Kremlin-Bicêtre

All Listed Sponsors
lead

Hospices Civils de Lyon

OTHER