Quality of Life in Patients With Hemorrhagic Telangiectasia

NCT06261333 | Enrolling By Invitation DMC

• 1 other identifier: 23-11519-BO
• Study Type: observational
• Target: 250
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Hereditary Hemorrhagic Telangiectasia

Outcome Measures

Primary Outcomes (1)

• 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

Interventions

Questionnaires OTHER

No Intervention

Eligibility Criteria

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

Study Population

Patients suffering from HHT

You may qualify if:

• knowledge of german language
• Age above 17 years
• capable of giving consent
• Diagnosis of HHT (Curaçao criteria or genetic testing)

Sponsors & Collaborators

• University Hospital, Essen: lead

Study Sites (1)

Departement of Otorhinolaryngology - Head and Neck Surgery University Hospital Essen

Essen, North Rhine-Westphalia, 45147, Germany

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: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: January 12, 2024
• First Posted: February 15, 2024
• Study Start: January 22, 2024
• Primary Completion: December 31, 2025
• Study Completion: December 31, 2025
• Last Updated: March 30, 2025

Record last verified: 2025-03

Data Sharing

• IPD Sharing: Will share

Locations

DE (1)