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Influence of Hypoxic Induced Factors in Patients With Hereditary Hemorrhagic Telangiectasia

Hereditary Hemorrhagic Telangiectasia Clinical Trial

Official title:
Influence of Hypoxic Induced Factors in Patients With Hereditary Hemorrhagic Telangiectasia (HHT)

Clinical Trial 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.

Clinical Trial 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 Design

Related Conditions & MeSH terms

  • Hereditary Hemorrhagic Telangiectasia
  • Telangiectasia, Hereditary Hemorrhagic
  • Telangiectasis
Clinical Trial Details
NCT number NCT04469517
Study type Observational [Patient Registry]
Source University Hospital, Essen
Contact Freya Droege, MD
Phone 0049201 723
Email freya.droege@uk-essen.de
Status Recruiting
Phase
Start date August 10, 2020
Completion date October 1, 2024
View Details
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