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

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

COMPLETED

Clinical Phase

NA

Total Enrollment

16 participants

Study Classification

INTERVENTIONAL

Study Start Date

2023-03-10

Study Completion Date

2023-05-20

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

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.

Related Clinical Trials

Explore similar clinical trials based on study characteristics and research focus.

Minimal Hepatic Encephalopathy in Hereditary Hemorrhagic Telangiectasian

NCT03586115

Hepatic Encephalopathy Minimal Brain Dysfunction

COMPLETED

Institutional Registry of Haemorrhagic Hereditary Telangiectasia

NCT01761981

Haemorrhagic Hereditary Telangiectasia

RECRUITING

Clinical Evaluation of Hemospray in Hemostasis of Active Variceal Bleeding

NCT01783899

Variceal Hemorrhage

COMPLETED NA

A Prospective, Randomized Trial of Histoacryl Injection Versus Thrombin in the Control of Acute Gastric Variceal Bleeding

NCT01717612

Ulcer, on Gastric Varices Rebleeding From Gastric Varices

UNKNOWN PHASE3

Clinical Investigation and Molecular Forms of Family Disease of Varicose

NCT02870127

Varicose Veins

COMPLETED

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Hereditary Haemorrhagic Telangiectasia

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Allocation Method

NA

Intervention Model

SINGLE_GROUP

Primary Study Purpose

BASIC_SCIENCE

Blinding Strategy

NONE

Study Groups

Review each arm or cohort in the study, along with the interventions and objectives associated with them.

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.

Group Type EXPERIMENTAL

Cord blood sampling

Intervention Type BIOLOGICAL

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

Cord blood sampling

Intervention Type BIOLOGICAL

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

Cord sampling

Intervention Type BIOLOGICAL

Collection of 20 centimeters (cm) of umbilical cord

Interventions

Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.

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

Intervention Type BIOLOGICAL

Cord blood sampling

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

Intervention Type BIOLOGICAL

Cord sampling

Collection of 20 centimeters (cm) of umbilical cord

Intervention Type BIOLOGICAL

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

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.

Eligible Sex

ALL

Accepts Healthy Volunteers

No