Influence of Hypoxic Induced Factors in Patients With Hereditary Hemorrhagic Telangiectasia

Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age18+
SponsorUniversity Hospital, Essen

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 volunteers

Qualifiers

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

Design model

Case-control

Time perspective

Prospective

Treatments tested in this trial

  • hypoxic induced factors

    Other intervention

    hypoxic induced factors analyzed in blood sample

Treatment groups

100 Participants
are divided into 2 treatment groups
Group A: HHT1 intervention
Group B: control1 intervention

Trial outcomes

Primary outcomes

1

Differences in hypoxic induced factors

Differences in hypoxic induced factors analyzed in blood samples from patients with HHT and healthy controls

Time frame
12 months

Secondary outcomes

1

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

Time frame
12 months

Other outcomes

Sponsors and contacts

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