Genotype Expression and Phenotype of Endothelial Cells, Carrying an ACVRL1, ENG or SMAD4 Mutation, in Response to BMP9 for the Identification of New Therapeutic Targets in Hereditary Haemorrhagic Telangiectasia

NACompletedINTERVENTIONAL
Enrollment

16

Participants

Timeline

Start Date

March 10, 2023

Primary Completion Date

May 20, 2023

Study Completion Date

May 20, 2023

Conditions
Hereditary Haemorrhagic Telangiectasia
Interventions
BIOLOGICAL

Cord blood sampling

Collection of 2 milliliters (mL) of cord blood on an Ethylenediaminetetraacetic acid (EDTA) tube, on the day of delivery and after cutting the umbilical cord, for genetic testing

BIOLOGICAL

Cord blood sampling

Collection of 50 to 100 mL of cord blood from the cord blood collection bag

BIOLOGICAL

Cord sampling

Collection of 20 centimeters (cm) of umbilical cord

Trial Locations (3)

34295

Hôpital St Eloi, Montpellier

63100

Hôpital Estaing, Clermont-Ferrand

69677

Hôpital Femme-mère-Enfant, Bron

All Listed Sponsors
lead

Hospices Civils de Lyon

OTHER