Influence of Hypoxic Induced Factors in Patients With Hereditary Hemorrhagic Telangiectasia

Study Overview
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Brief Summary
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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.

Detailed Description
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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.

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

Conditions
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Hereditary Hemorrhagic Telangiectasia

Intervention / Treatment
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* Other: hypoxic induced factors


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: diagnosed HHT (genetic testing and/ or fulfill at least 3 Curacao Criteria) older than 17 years ability to consent Exclusion Criteria: if inclusion Criteria are not met

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| HHT<br>patients with HHT | Other: hypoxic induced factors<br>* hypoxic induced factors analyzed in blood sample<br>|
| control<br>persons age- and sex matched who do not suffer from HHT nor their first or second degree relatives | Other: hypoxic induced factors<br>* hypoxic induced factors analyzed in blood sample<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Differences in hypoxic induced factors | Differences in hypoxic induced factors analyzed in blood samples from patients with HHT and healthy controls | 12 months | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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 | 12 months | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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hereditary hemorrhagic telangiectasia