Description of the Impact of Symptoms on Quality of Life in HHT Disease: DISQUO

NCT07191639 | Completed

• 1 other identifier: 24-5147
• Study Type: observational
• Target: 185
• Locations: 1 country
• Sites: 1

Brief Summary

In 2017, the ELECT-RO study led, firstly, to the creation of a tool to measure quality of life (QoL) specific to HHT (hereditary haemorrhagic telangiectasia disease), QoL-HHT, based on patients' experiences, their representations and their difficulties. Secondly, the ELECT-RO study demonstrated the validity of the measurement scale, meaning that QoL-HHT does indeed measure patients' QoL and is therefore a reference tool. QoL-HHT gives investigators a good understanding of the different aspects of patients' QoL (physical limitations, concerns about bleeding, concerns about the evolution of the disease, social relationships, relationships with healthcare professionals and the experience of the disease), whether they are affected or not, at an individual level. Today, investigators believe it is important to take a more global (population-based) view of the aspects of quality of life affected by HHT. While studies have shown the importance of the role of epistaxis (frequency, duration, intensity, experience) in QoL, what about other symptoms and clinical signs? The DISQUO study, which the researchers plan to start today, is a follow-up to ELECT-RO. It should enable the researchers to gain a better understanding of the QoL of people with HHT and the impact of each symptom of HHT on patients' QoL. The DISQUO study will therefore allow the investigators to gain a better understanding of the impact of HHT symptoms on the different areas of patients' QoL.

Conditions

Hereditary Hemorrhagic Telangiectasia (HHT)

Keywords

Quality of life; HHT

Outcome Measures

Primary Outcomes (1)

• Description of the quality of life assessed by QOL-HHT scale of HHT patients

  the different scores measured by the QOL-HHT scale

  Baseline

Study Arms (1)

HHT patients

completion of the QoL-HHT questionnaire during a consultation at the reference centre

Other: completion of the QOL-HHT questionnaire

Interventions

completion of the QOL-HHT questionnaire OTHER

filling in the QOL-HHT questionnaire when they come for consultation

HHT patients

Eligibility Criteria

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

Study Population

* Population: Patient with clinically (presence of at least 3 Curaçao criteria) and/or molecularly confirmed HHT disease * Patient of legal age (over 18 years old) * Patient who has received the information and has not objected to taking part in the study

You may qualify if:

• Patient with clinically (presence of at least 3 Curaçao criteria) and/or molecularly confirmed HHT disease
• Patient of legal age (over 18 years old)
• Patient who has received the information and has not objected to taking part in the study

You may not qualify if:

• Patients unable to read a questionnaire written in French
• Adults protected by law

Sponsors & Collaborators

• Hospices Civils de Lyon: lead

Study Sites (1)

Hôpital Femme-Mère-Enfant - Centre de référence pour la maladie de Rendu-Osler

Bron, 69500, France

Location

MeSH Terms

Conditions

Telangiectasia, Hereditary Hemorrhagic

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

Study Design

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

Study Record Dates

• First Submitted: August 13, 2025
• First Posted: September 25, 2025
• Study Start: December 1, 2024
• Primary Completion: December 1, 2024
• Study Completion: May 1, 2025
• Last Updated: September 25, 2025

Record last verified: 2025-09

Locations

FR (1)