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Influence of Hypoxic Induced Factors in Patients With Hereditary Hemorrhagic Telangiectasia
Sponsor: University Hospital, Essen
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.
Official title: Influence of Hypoxic Induced Factors in Patients With Hereditary Hemorrhagic Telangiectasia (HHT)
Key Details
Gender
All
Age Range
18 Years - Any
Study Type
OBSERVATIONAL
Enrollment
100
Start Date
2020-08-10
Completion Date
2026-10-01
Last Updated
2024-12-06
Healthy Volunteers
Yes
Conditions
Interventions
hypoxic induced factors
hypoxic induced factors analyzed in blood sample
Locations (1)
University Hospital Essen
Essen, North Rhine-Westphalia, Germany