Evaluation of Obstetrical and Neonatal Complications in Hereditary Haemorrhagic Telangiectasia (HHT)

Hereditary Haemorrhagic Telangiectasia (HHT) is a rare inherited genetic disease of autosomal dominant inheritance with a prevalence of about 1/5000. It is manifested by haemorrhage, mucocutaneous telangiectasia and visceral arteriovenous malformations (AVMs) (lung, liver and nervous system).

Severe complications during pregnancy in HHT are rare but considered high risk. Intracranial or pulmonary haemorrhage, stroke and heart failure have been reported in some women with HHT during pregnancy. These complications occur most often in the second and third trimesters when maternal physiological changes such as peripheral vasodilatation and increased cardiac output are at their peak.

Previous retrospective studies were conducted with numbers ranging from 40 to 97 patients and highlighted the importance of early screening of complications and specific management.

The aim of this study is to describe, on a larger number of patients, the obstetric and neonatal complications in patients with HHT and followed in the French Reference Center for HHT.

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Key information

Conditions

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

Age range

18 year and older

Sex eligibility

Female

Study type

Observational

Primary location

Centre de Référence pour la maladie de Rendu-Osler Service Génétique Clinique Bâtiment A1 - Hôpital Femme-Mère-Enfant - Hospices Civils de Lyon

Bron, 69677, France

Who can participate

Healthy volunteers accepted: No

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

Inclusion criteria

Women ≥ 18 years.
Patients monitored for clinically confirmed Hereditary Haemorrhagic Telangiectasia (presence of at least three Curaçao criteria) and / or with molecular biology confirmation.
Patients with at least 1 full term pregnancy between 1960 and 2018.
Received information and no opposition to participate in the study.

Exclusion criteria

No full term pregnancies.
Refusal to participate in the study.

Treatment and study plan

Questionnaire

Other

Interview of women with Hereditary Haemorrhagic Telangiectasia (HHT) during a consultation in the Reference Center for HHT or through a phone questionnaire about obstetric history, complications during pregnancy, delivery and neonatal outcomes.

Primary outcomes

Occurrence of complications during pregnancy

Time frame: Interview time (about 15 minutes)

The questionnaire consists in collecting obstetric history (number of pregnancies, abortions), complications during pregnancy, delivery type and neonatal outcomes.

Sponsors and collaborators

Lead sponsor

Hospices Civils de Lyon

Other

Registry information

Official study title

A Retrospective Study of Obstetrical and Neonatal Complications in Hereditary Haemorrhagic Telangiectasia (HHT)

Acronym: CONCERTO

Important dates

Study start: 2018
Primary completion: 2019
Study completion: 2019
First posted: Oct 1, 2018
Registry last updated: Oct 23, 2019

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.

Completed