NCT05632484

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

• Status: Completed
• Phase: N/A
• Study type: Interventional
• Enrollment: 16 (actual)
• Sponsor: Hospices Civils de Lyon · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

Summary

Hereditary hemorrhagic telangiectasia (HHT) or Osler-Weber-Rendu syndrome patients are carriers of a heterozygous mutation of the activin receptor-like kinase 1 (ACVRL1), Endoglin (ENG) or Mothers against decapentaplegic homolog 4 (SMAD4) gene. HHT involves the Bone Morphogenetic Protein 9 (BMP9)/Activin receptor-Like Kinase 1 (ALK1)-endoglin signalling pathway. BMP9 is a growth factor that binds to ALK1 receptor and to endoglin its co-receptors and physiologically activates Smad signaling pathway. Endothelial cells in HHT patients display half expression of functional ALK1 receptors or endoglin co-receptors or of the transcription factor SMAD4, which should lead to effects on the functions of these cells. The identification of differences in gene expression between endothelial cells from HHT patients and healthy donors will allow the identification of new functions or new target pathways for therapy. Circulating endothelial cells are rare in the bloodstream in adults, but are present in greater quantities in cord blood.

Conditions

• Hereditary Haemorrhagic Telangiectasia

Interventions

Type	Name	Description
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

Timeline

• Start date: 2023-03-10
• Primary completion: 2023-05-20
• Completion: 2023-05-20
• First posted: 2022-11-30
• Last updated: 2025-09-03

Locations

3 sites across 1 country: France