Quality of Life in Patients With Hemorrhagic Telangiectasia

Hereditary Hemorrhagic Telangiectasia Clinical Trial

Official title:

Influence of Telangiectasia and Anemia on the Well-being and Quality of Life of Patients With Hereditary Hemorrhagic Telangiectasia (HHT).

Clinical Trial Details — Status: Enrolling by invitation

Administrative data

• NCT number: NCT06261333
• Other study ID #: 23-11519-BO
• Status: Enrolling by invitation
• Start date: January 22, 2024
• Est. completion date: December 31, 2025

Study information

• Verified date: February 2024
• Source: University Hospital, Essen
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler's disease, is a genetic disorder that leads to abnormal blood vessel formations. It primarily affects blood vessels in the skin, mucous membranes, and internal organs. The disease can be clinically diagnosed using the Curaçao criteria (1. Positive family history of HHT, 2. Recurrent and spontaneous epistaxis, 3. Multiple typical telangiectasias, 4. Organ involvement with vascular malformations, especially in the liver, lungs, gastrointestinal tract, or brain); if a patient meets at least 3 criteria, the diagnosis of HHT can be established.

Patients with HHT often have telangiectasias on their faces. Additionally, many patients suffer from anemia, which can result in a pale and potentially tired appearance. Patients with HHT may be less satisfied with their appearance due to the aesthetic changes in their faces and may also experience psychosocial impairment. To further investigate this, various validated questionnaires (FACE-Q©, PROMIS-Profile-29+2, EQ5D), as well as routinely collected clinical data (e.g., laboratory values including hemoglobin levels, Curaçao criteria, smoking status, alcohol consumption, and the Epistaxis Severity Score (ESS)) will be used.

Recruitment information / eligibility

• Status: Enrolling by invitation
• Enrollment: 250
• Est. completion date: December 31, 2025
• Est. primary completion date: December 31, 2024
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

Inclusion criteria:

• knowledge of german language

• Age above 17 years

• capable of giving consent

• Diagnosis of HHT (Curaçao criteria or genetic testing)

Exclusion criteria:

-Individuals not meeting the inclusion criteria.

Related Conditions & MeSH terms

• Hereditary Hemorrhagic Telangiectasia
• Telangiectasia, Hereditary Hemorrhagic
• Telangiectasis

Intervention

Other:
• Questionnaires
No Intervention

Locations

Country	Name	City	State
Germany	Departement of Otorhinolaryngology - Head and Neck Surgery University Hospital Essen	Essen	NRW

Sponsors (1)

Lead Sponsor	Collaborator
University Hospital, Essen

Country where clinical trial is conducted

Germany, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Quality of Life and Patient Satisfaction measured using the FACE-Questionnaire	Using patient reported outcome measurements: Face-Questionnaire and Patient-Reported Outcomes Measurement Information System (PROMIS) in order to assess the quality of life in patients with HHT	one year