Clinical trial NCT03695874: Development of a Quality of Life Measurement Scale in Hereditary Haemorrhagic Telangiectasia (HHT) Disease.
Official title: Development of a Quality of Life Measurement Scale in Hereditary Haemorrhagic Telangiectasia (HHT) Disease.
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Hereditary Hemorrhagic Telangiectasia
Lead sponsor: Hospices Civils de Lyon
Sponsor class: OTHER
First posted: 2018-10-04
Enrollment: 643
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: OTHER
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients with an Hereditary Haemorrhagic Telangiectasia disease.

Brief summary: 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.


Eligibility criteria: 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

Primary outcomes:
measure: Validity of the factor structure of the developed measurement scale.
timeFrame: 1 hour
measure: Validity of the reliability of the developed measurement scale.
timeFrame: 1 hour
Secondary outcomes:
Other outcomes:
Locations:
city: Bron
country: France
facility: Centre de Référence pour la Maladie de Rendu-Osler - Service de Génétique Clinique - HOSPICES CIVILS DE LYON - Groupement Hospitalier Est
Study officials:
References:
citation: Le TTT, Martinent G, Dupuis-Girod S, Parrot A, Contis A, Riviere S, Chinet T, Grobost V, Espitia O, Dussardier-Gilbert B, Alric L, Armengol G, Maillard H, Leguy-Seguin V, Leroy S, Rondeau-Lutz M, Lavigne C, Mohamed S, Chaussavoine L, Magro P, Seguier J, Kerjouan M, Fourdrinoy S. Development and validation of a quality of life measurement scale specific to hereditary hemorrhagic telangiectasia: the QoL-HHT. Orphanet J Rare Dis. 2022 Jul 19;17(1):281. doi: 10.1186/s13023-022-02426-2.