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Influence of Hypoxic Induced Factors in Patients With Hereditary Hemorrhagic Telangiectasia

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT04469517
Recruitment Status : Recruiting
First Posted : July 14, 2020
Last Update Posted : March 22, 2022
Sponsor:
Information provided by (Responsible Party):
Freya Droege, University Hospital, Essen

Study Description
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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.

Condition or disease Intervention/treatment
Hereditary Hemorrhagic Telangiectasia Other: hypoxic induced factors

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.
Study Design
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Study Type : Observational [Patient Registry]
Estimated Enrollment : 100 participants
Observational Model: Case-Control
Time Perspective: Prospective
Target Follow-Up Duration: 12 Months
Official Title: Influence of Hypoxic Induced Factors in Patients With Hereditary Hemorrhagic Telangiectasia (HHT)
Actual Study Start Date : August 10, 2020
Estimated Primary Completion Date : June 30, 2022
Estimated Study Completion Date : October 1, 2022

Resource links provided by the National Library of Medicine


Groups and Cohorts
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Group/Cohort Intervention/treatment
HHT
patients with HHT
 Other: hypoxic induced factors
hypoxic induced factors analyzed in blood sample
control
persons age- and sex matched who do not suffer from HHT nor their first or second degree relatives
 Other: hypoxic induced factors
hypoxic induced factors analyzed in blood sample


Outcome Measures
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Primary Outcome Measures :
  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 Outcome Measures :
  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


Biospecimen Retention:   Samples With DNA
Blood sample

Eligibility Criteria
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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Patients with diagnosed hereditary hemorrhagic telangiectasie (HHT)
Criteria

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
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT04469517


Contacts
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Contact: Freya Droege, MD 0049201 723 ext 2481 freya.droege@uk-essen.de
Contact: Anna Wrobeln, PhD 0049201 723 ext 4646 anna.wrobeln@uk-essen.de

Locations
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Germany
University Hospital Essen Recruiting
Essen, NRW, Germany, 45147
Contact: Freya Droege, MD    0049201723 ext 2481    freya.droege@uk-essen.de   
Sponsors and Collaborators
University Hospital, Essen
Investigators
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Principal Investigator: Freya Droege, MD University hospital Essen Otorhinolaryngology, Hufelandstr. 55, 45147 Essen, Germany
More Information
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Publications:

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Responsible Party: Freya Droege, Principle Investigator, Speaker of Westgerman HHT Center, University Hospital, Essen
ClinicalTrials.gov Identifier: NCT04469517    
Other Study ID Numbers: HIF in HHT
First Posted: July 14, 2020    Key Record Dates
Last Update Posted: March 22, 2022
Last Verified: March 2022
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Freya Droege, University Hospital, Essen:
hereditary hemorrhagic telangiectasia
Additional relevant MeSH terms:
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Telangiectasis
Telangiectasia, Hereditary Hemorrhagic
Vascular Diseases
Cardiovascular Diseases
Hemostatic Disorders
 Hemorrhagic Disorders
Hematologic Diseases
Vascular Malformations
Cardiovascular Abnormalities
Congenital Abnormalities