Ignite Creation Date:
2024-05-06 @ 6:22 PM
Last Modification Date:
2024-10-26 @ 2:46 PM
Study NCT ID:
NCT05632484
Status:
COMPLETED
Last Update Posted:
2023-06-02
First Post:
2022-10-21
Brief Title:
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
Sponsor:
Hospices Civils de Lyon
Organization:
Hospices Civils de Lyon
Study Overview
Official Title:
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
Status Verified Date:
2023-06
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
CAERO
Brief 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 BMP9Activin 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
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
Detailed Description:
None
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| 2021-A01792-39 | OTHER | ID-RCB | None |