Influence of Hypoxic Induced Factors in Patients With Hereditary Hemorrhagic Telangiectasia

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

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT04469517

Enrollment

100

Registered

2020-07-14

Start date

2020-08-10

Completion date

2026-10-01

Last updated

2024-12-06

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Hereditary Hemorrhagic Telangiectasia

Keywords

hereditary hemorrhagic telangiectasia

Brief 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.

Detailed 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.

Interventions

OTHERhypoxic induced factors

hypoxic induced factors analyzed in blood sample

Study design

Observational model

CASE_CONTROL

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

18 Years to No maximum

Healthy volunteers

Yes

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

Design outcomes

Primary

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

Secondary

Measure	Time frame	Description
Correlation of level of hypoxic induced factors and disease severity	12 months	Correlation of level of hypoxic induced factors in patients' blood sample and their disease severity

Countries

Germany

Contacts

Primary ContactFreya Droege, MD

freya.droege@uk-essen.de0049201 723

Backup ContactAnna Wrobeln, PhD

anna.wrobeln@uk-essen.de0049201 723

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026