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

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

Sponsors

Lead Sponsor: Hospices Civils de Lyon

Source Hospices Civils de Lyon
Brief Summary

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.

Overall Status Completed
Start Date October 2, 2018
Completion Date October 2, 2019
Primary Completion Date October 2, 2019
Study Type Observational
Primary Outcome
Measure Time Frame
Occurrence of complications during pregnancy Interview time (about 15 minutes)
Enrollment 207
Condition
Intervention

Intervention Type: Other

Intervention Name: Questionnaire

Description: 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.

Arm Group Label: Women with Hereditary Haemorrhagic Telangiectasia

Eligibility

Sampling Method: Non-Probability Sample

Criteria:

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.

Gender: Female

Gender Based: Yes

Minimum Age: 18 Years

Maximum Age: N/A

Healthy Volunteers: No

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

France

Verification Date

October 2019

Responsible Party

Type: Sponsor

Has Expanded Access No
Condition Browse
Arm Group

Label: Women with Hereditary Haemorrhagic Telangiectasia

Description: Women with Hereditary Haemorrhagic Telangiectasia with at least one full term pregnancy

Acronym CONCERTO
Patient Data No
Study Design Info

Observational Model: Other

Time Perspective: Prospective

Source: ClinicalTrials.gov