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 (CAERO)
Hereditary Haemorrhagic Telangiectasia
About this trial
This is an interventional basic science trial for Hereditary Haemorrhagic Telangiectasia focused on measuring hereditary haemorrhagic telangiectasia, endothelial cell
Eligibility Criteria
Inclusion Criteria: Newborn whose parents : are adults are affiliated to a social security or similar are not subject to any legal protection measures Newborn child with one parent who has monitored for HHT confirmed by molecular biology (carrier of a mutation of the SMAD4, ENG or ACVRL1 gene). Consent signed by the two representatives of parental authority Exclusion Criteria: One of the two parents opposes donating the umbilical cord blood and the umbilical cord for research One of the two parents opposes genetic testing Patient for whom it was not possible to obtain umbilical cord blood after delivery for technical or medical reasons.
Sites / Locations
- Hôpital Femme-mère-Enfant
- Hôpital Estaing
- Hôpital St Eloi
Arms of the Study
Arm 1
Experimental
Newborns with a parent with HHT disease
16 newborns with one parent suffering HHT disease and carrying a mutation in the ACVRL1, ENG or SMAD4 gene will be included in this study.