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

NCT03691142 | Completed

• 1 other identifier: 69HCL18_0267
• Study Type: observational
• Target: 207
• Locations: 1 country
• Sites: 1

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.

Conditions

Osler Rendu Disease; Hereditary Hemorrhagic Telangiectasia

Outcome Measures

Primary Outcomes (1)

• Occurrence of complications during pregnancy

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

  Interview time (about 15 minutes)

Study Arms (1)

Women with Hereditary Haemorrhagic Telangiectasia

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

Other: Questionnaire

Interventions

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.

Women with Hereditary Haemorrhagic Telangiectasia

Eligibility Criteria

• Age: 18 Years+
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Women with Hereditary Haemorrhagic Telangiectasia and one or more past pregnancies.

You may qualify if:

• 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.

You may not qualify if:

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

Sponsors & Collaborators

• Hospices Civils de Lyon: lead

Study Sites (1)

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

Location

MeSH Terms

Conditions

Telangiectasia, Hereditary Hemorrhagic

Interventions

Surveys and Questionnaires

Condition Hierarchy (Ancestors)

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

Intervention Hierarchy (Ancestors)

Data Collection; Epidemiologic Methods; Investigative Techniques; Health Care Evaluation Mechanisms; Quality of Health Care; Health Care Quality, Access, and Evaluation; Public Health; Environment and Public Health

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 28, 2018
• First Posted: October 1, 2018
• Study Start: October 2, 2018
• Primary Completion: October 2, 2019
• Study Completion: October 2, 2019
• Last Updated: October 23, 2019

Record last verified: 2019-10

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)