Influence of Hypoxic Induced Factors in Patients With Hereditary Hemorrhagic Telangiectasia

Recruiting now

Conditions studied: Hereditary Hemorrhagic Telangiectasia

In brief

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.

Key facts

Study ID

NCT04469517

Run by

University Hospital, Essen

People needed

100

Starts

2020-08-10

Expected to finish

2026-10-01

Last updated by the study team

2024-12-06

Who can join

Age: 18 and older. Sex: any. Healthy volunteers: accepted.

You may qualify if…

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

You may not qualify if…

• if inclusion Criteria are not met

Where it is running

• University Hospital Essen — Essen, North Rhine-Westphalia, Germany (enrolling)

Full record on ClinicalTrials.gov

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