Influence of Hypoxic Induced Factors in Patients With Hereditary Hemorrhagic Telangiectasia
Influence of Hypoxic Induced Factors in Patients With Hereditary Hemorrhagic Telangiectasia (HHT)
University Hospital, Essen
100 participants
Aug 10, 2020
OBSERVATIONAL
Conditions
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.
Eligibility
Inclusion Criteria3
- diagnosed HHT (genetic testing and/ or fulfill at least 3 Curacao Criteria)
- older than 17 years
- ability to consent
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Interventions
hypoxic induced factors analyzed in blood sample
Locations(1)
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NCT04469517