Development of a Quality of Life Measurement Scale in Hereditary Haemorrhagic Telangiectasia (HHT) Disease. (ELECT-RO)

Civil Hospices of Lyon

Status: Completed

Conditions: Hereditary Hemorrhagic Telangiectasia

Treatments: Other: Phase 1 : fill out 1 scale; Other: Phase 2 : fill out 1 scale and 4 questionnaires

Study type: Observational

Funder types: Other

Identifiers

NCT03695874

69HCL18_0543

Details and patient eligibility

About

Hereditary Haemorrhagic Telangiectasia (HHT) is a rare inherited genetic disease of autosomal dominant inheritance with a prevalence of 1/6000. It is manifested by haemorrhages, mucocutaneous telangiectasias and visceral arteriovenous malformations. These symptoms significantly affect the daily lives of patients, their social relationships and their working lives.

HAS (Haute Autorité de Santé) national recommendations focus on assessing and improving the quality of life (QOL) of patients. Many scales for measuring QOL exist but they are most often general and therefore have the disadvantage of not taking into account the particularities of pathologies and their symptoms and do not allow to have a precise vision of their impact on QOL.

It is important to be able to evaluate this impact, to determine its nature and to quantify it so that health professional can adapt their proposal for the management of HHT patients. And only the development of a specific and validated QOL measurement scale will allow them to access this information.

The aim of this study is to develop a scale of measurement of quality of life in HHT disease and to validate it, a scale specific to HHT, simple and fast to fill by the patients themselves.

Enrollment: 643 patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• over 18 years
• able to read French
• with clinically confirmed Hereditary Haemorrhagic Telangiectasia disease (presence of at least 3 Curaçao criteria) and / or molecular biology
• who received the information and did not object to participate in the study

Exclusion criteria

• None

Trial design

643 participants in 2 patient groups

Phase 1: statistical purification

Description:

400 Hereditary Haemorrhagic Telangiectasia patients: * over 18 years * able to read French * with clinically confirmed Hereditary Haemorrhagic Telangiectasia disease (presence of at least 3 Curaçao criteria) and / or molecular biology * who received the information and did not object to participate in the study

Treatment:

Other: Phase 1 : fill out 1 scale

Phase 2: statistical validation

Description:

200 Hereditary Haemorrhagic Telangiectasia patients: * over 18 years * able to read French * with clinically confirmed Hereditary Haemorrhagic Telangiectasia disease (presence of at least 3 Curaçao criteria) and / or molecular biology * who received the information and did not object to participate in the study

Treatment:

Other: Phase 2 : fill out 1 scale and 4 questionnaires