Influence of Hypoxic Induced Factors in Patients With Hereditary Hemorrhagic Telangiectasia

Recruiting

• Conditions: Hereditary Hemorrhagic Telangiectasia
• Interventions: Other: hypoxic induced factors

• Registration Number: NCT04469517
• Lead Sponsor: University Hospital, Essen

Brief Summary

Patients with hereditary hemorrhagic telangiectasia (HHT) suffer from an inherited disorder leading to systemic vascular malformations. Mutations in several genes of the transforming growth factor (TGF)-β superfamily pathway influence angiogenesis in patients with HHT. The genetic loss of ALK1 or ENG alone are not sufficient to induce AVMs; environmental insults that could trigger angiogenesis (e.g. wounding) are also needed. In this study it will be analyzed if hypoxic induced factors could have an influence on the disease HHT.

Detailed Description

Hereditary hemorrhagic telangiectasia (HHT) is characterized by systemic vascular malformations leading to recurrent bleedings and shunt formation especially in the liver, lungs and the brain. The underlying pathogenic HHT mechanism remains unclear. The wide variability in age of onset and severity of symptoms amongst patients, even within the same family, suggests several factors contribute to the complexity of this disease. Mutations in several genes of the transforming growth factor (TGF)-β superfamily pathway influence angiogenesis in patients with HHT. The genetic loss of ALK1 or ENG alone are not sufficient to induce AVMs; environmental insults that could trigger angiogenesis (e.g. wounding) are also needed. In this study it will be analyzed if hypoxic induced factors could have an influence on the disease HHT.

Study Timeline

• Study First Submitted: 2020-07-08
• Study First Submitted QC: 2020-07-08
• Study First Posted: 2020-07-14
• Study Start: 2020-08-10
• Status Verified: 2024-12
• Last Update Submitted: 2024-12-05
• Last Update Posted: 2024-12-06
• Primary Completion: 2025-12-31
• Study Completion: 2026-10-01

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 100

Inclusion Criteria

• diagnosed HHT (genetic testing and/ or fulfill at least 3 Curacao Criteria)
• older than 17 years
• ability to consent

Exclusion Criteria

• if inclusion Criteria are not met

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
control	hypoxic induced factors	persons age- and sex matched who do not suffer from HHT nor their first or second degree relatives
HHT	hypoxic induced factors	patients with HHT

Primary Outcome Measures

Name	Time	Method
Differences in hypoxic induced factors	12 months	Differences in hypoxic induced factors analyzed in blood samples from patients with HHT and healthy controls

Secondary Outcome Measures

Name	Time	Method
Correlation of level of hypoxic induced factors and disease severity	12 months	Correlation of level of hypoxic induced factors in patients' blood sample and their disease severity

Trial Locations

Locations (1)

University Hospital Essen; 🇩🇪 Essen, NRW, Germany