Prospective Descriptive Study of the Angiogenic T Cell Population in Subjects With Hereditary Hemorrhagic Telangiectasia (HHT)

Hereditary hemorrhagic telangiectasia (HHT) results from genetic deregulation of angiogenesis. It is characterized by mucocutaneous telangiectasia responsible for recurrent epistaxis affecting quality of life (anaemia, iron deficiency, social distress). More rarely, HHT is complicated by the appearance of pulmonary, hepatic or cerebral arteriovenous malformations that can lead to serious complications: cerebrovascular accidents, cerebral abscesses, high output heart failure, and massive hemoptysis (1). The intensity of symptoms increases with age but with significant individual variability, even for the same mutation in the same family. Thus, while the mutations responsible for the disease have been identified, the pathophysiology is not fully understood because these mutations do not explain the great diversity of clinical presentations. Other factors not yet identified probably play an important role. Angiogenic T cells (TANG) are a newly individualized T cell population, defined by a CD4+CXCR4+CD31+ phenotype, which plays a key role in differentiating endothelial progenitors (2).

In an earlier study, the investigators showed that patients with HHT had a decrease in CD4+ and CD8+ LT compared to a cohort of healthy subjects (3).

They hypothesize that the lymphopenia mainly involves TANG, whose quantification could make it possible to assess the individual level of angiogenesis during HHT. The evaluation of the TANG levels could thus make it possible to personalize HHT management.

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Key information

Conditions

Hereditary Hemorrhagic Telangiectasia Cardiovascular Abnormalities Cardiovascular Diseases Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Hematologic Diseases Hemic and Lymphatic Diseases Hemorrhagic Disorders Hemostatic Disorders Telangiectasia, Hereditary Hemorrhagic Telangiectasis Vascular Diseases Vascular Malformations

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

CHU Dijon Bourgogne

Dijon, 21079, France

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

Person who has given consent
Adult
Person capable of understanding spoken and written French

"Patient" group:

Certain HHT (3 or 4 Curacao criteria - Appendix 2):
Recurring epistaxis
Telangiectasia of the skin or mouth
Family hereditary context
Arteriovenous visceral malformations
Causal mutation identified
Person capable of completing monthly epistaxis charts

"Control" group :

Control subjects will be matched to patients for age (+/- 6 years) and sex.

Exclusion criteria

Person not affiliated to a national health insurance scheme
Pregnant or breastfeeding woman
Protected adult
Hemoglobin levels less than 9 g/dl in the last 15 days
Progressive or recent infectious disease, autoimmune disease or cancer (less than 6 months)
Immunosuppressive treatment in progress or recent (less than 6 months), including systemic steroid therapy. The use of inhaled or topical steroids is not an exclusion criterion.
Treatment in progress or stopped less than 6 months ago or to be introduced within the next 3 months of the following medications:

bevacizumab
tranexamic acid
dipeptidyl peptidase 4 inhibitors (diabetic patient)
beta-blockers (hypertensive patient)

Treatment and study plan

blood samples

Biological

5 mL dry tube to separate serum
Two 6 mL EDTA tubes for plasma separation
Eight 6 mL heparinized tubes for flow cytometry (quantification of TANG such as CD3+CD31+CXCR4+ and CEC) and quantification of angiogenesis markers.

Epistaxis charts

Other

Three monthly epistaxis charts to be completed

Primary outcomes

Average monthly duration (in minutes) of epistaxis over the 3 months following inclusion

Time frame: Through study completion, an average of 3 months
Number/mm3 of circulating TANG (CD3+CXCR4+CD31+) at inclusion.

Time frame: At inclusion

Sponsors and collaborators

Lead sponsor

Centre Hospitalier Universitaire Dijon

Other

Registry information

Acronym: TangRO

Important dates

Study start: 2018
Primary completion: 2020
Study completion: 2020
First posted: Jun 28, 2018
Registry last updated: Nov 20, 2020

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

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