Influence of Hypoxic Induced Factors in Patients With Hereditary Hemorrhagic Telangiectasia

Last updated: December 5, 2024
Sponsor: University Hospital, Essen
Overall Status: Active - Recruiting

Phase

N/A

Condition

Hemophilia

Treatment

hypoxic induced factors

Clinical Study ID

NCT04469517
HIF in HHT
  • Ages > 18
  • All Genders
  • Accepts Healthy Volunteers

Study 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.

Eligibility Criteria

Inclusion

Inclusion Criteria:

  • diagnosed HHT (genetic testing and/ or fulfill at least 3 Curacao Criteria)

  • older than 17 years

  • ability to consent

Exclusion

Exclusion Criteria:

  • if inclusion Criteria are not met

Study Design

Total Participants: 100
Treatment Group(s): 1
Primary Treatment: hypoxic induced factors
Phase:
Study Start date:
August 10, 2020
Estimated Completion Date:
October 01, 2026

Study 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.

Connect with a study center

  • University Hospital Essen

    Essen, NRW 45147
    Germany

    Active - Recruiting

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