About this trial
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 criteria
This trial accepts healthy volunteersQualifiers
diagnosed HHT (genetic testing and/ or fulfill at least 3 Curacao Criteria)
older than 17 years
ability to consent
Disqualifiers
if inclusion Criteria are not met
Trial population
Patients with diagnosed hereditary hemorrhagic telangiectasie (HHT)
Trial design
Case-control
Prospective
Treatments tested in this trial
hypoxic induced factors
Other interventionhypoxic induced factors analyzed in blood sample
Treatment groups
Trial outcomes
Primary outcomes
Differences in hypoxic induced factors
Differences in hypoxic induced factors analyzed in blood samples from patients with HHT and healthy controls
Secondary outcomes
Correlation of level of hypoxic induced factors and disease severity
Correlation of level of hypoxic induced factors in patients' blood sample and their disease severity
Sponsors and contacts
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