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

Plain-language summary

This is an observational study that aims to identify new treatment targets by examining how inner blood-vessel cells carrying an ACVRL1, ENG or SMAD4 gene mutation respond to a protein called BMP9, in the context of hereditary haemorrhagic telangiectasia (an inherited disease affecting blood-vessel development). Samples were taken from the umbilical cord blood of newborns who have one parent carrying a mutation in these genes. It is a non-interventional (observational) study and has been completed.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

Not Applicable

Status

Completed

Sponsor

Hospices Civils de Lyon

Intervention

Cord blood sampling, Cord blood sampling, Cord sampling

Start date

3/10/2023

Estimated completion

5/20/2023

Countries

France

Related genes

Locations

• Bron, France
• Clermont-Ferrand, France
• Montpellier, France

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

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.