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NCT Number: NCT04469517

Influence of Hypoxic Induced Factors in Patients With Hereditary Hemorrhagic Telangiectasia

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.

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Key information

Conditions

Hereditary Hemorrhagic Telangiectasia Cardiovascular Abnormalities Cardiovascular Diseases Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Hematologic Diseases Hemic and Lymphatic Diseases Hemorrhagic Disorders Hemostatic Disorders Telangiectasia, Hereditary Hemorrhagic Telangiectasis Vascular Diseases Vascular Malformations

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

University Hospital Essen

Essen, North Rhine-Westphalia, 45147, Germany

Location status: Recruiting

Location contact

Freya Droege, MD

CONTACT

[email protected]

0049201723 ext. 2481

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

hypoxic induced factors

Other

hypoxic induced factors analyzed in blood sample

Primary outcomes

  1. Differences in hypoxic induced factors

    Time frame: 12 months

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

Secondary outcomes

  1. Correlation of level of hypoxic induced factors and disease severity

    Time frame: 12 months

    Correlation of level of hypoxic induced factors in patients' blood sample and their disease severity

Study contacts

Contact information is provided by the study sponsor or research team.

Anna Wrobeln, PhD

CONTACT

[email protected]

0049201 723 ext. 4646

Freya Droege, MD

CONTACT

[email protected]

0049201 723 ext. 2481

Sponsors and collaborators

Lead sponsor

University Hospital, Essen

Other

Registry information

Official study title

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

Important dates

Study start
2020
Primary completion
2025
Study completion
2026
First posted
Jul 14, 2020
Registry last updated
Dec 6, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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