MedDataX Logo

Influence of Hypoxic Induced Factors in Patients With Hereditary Hemorrhagic Telangiectasia

NCT ID: NCT04469517

Last Updated: 2024-12-06

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

RECRUITING

Total Enrollment

100 participants

Study Classification

OBSERVATIONAL

Study Start Date

2020-08-10

Study Completion Date

2026-10-01

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

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

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

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.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Hereditary Hemorrhagic Telangiectasia

Keywords

Explore important study keywords that can help with search, categorization, and topic discovery.

hereditary hemorrhagic telangiectasia

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

CASE_CONTROL

Study Time Perspective

PROSPECTIVE

Study Groups

Review each arm or cohort in the study, along with the interventions and objectives associated with them.

HHT

patients with HHT

hypoxic induced factors

Intervention Type OTHER

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

hypoxic induced factors

Intervention Type OTHER

hypoxic induced factors analyzed in blood sample

Interventions

Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.

hypoxic induced factors

hypoxic induced factors analyzed in blood sample

Intervention Type OTHER

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

Inclusion Criteria

* diagnosed HHT (genetic testing and/ or fulfill at least 3 Curacao Criteria)
* older than 17 years
* ability to consent
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

Meet the organizations funding or collaborating on the study and learn about their roles.

University Hospital, Essen

OTHER

Sponsor Role lead

Responsible Party

Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.

Freya Droege

Principle Investigator, Speaker of Westgerman HHT Center

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

Learn about the lead researchers overseeing the trial and their institutional affiliations.

Freya Droege, MD

Role: PRINCIPAL_INVESTIGATOR

University hospital Essen Otorhinolaryngology, Hufelandstr. 55, 45147 Essen, Germany

Locations

Explore where the study is taking place and check the recruitment status at each participating site.

University Hospital Essen

Essen, North Rhine-Westphalia, Germany

Site Status RECRUITING

Countries

Review the countries where the study has at least one active or historical site.

Germany

Central Contacts

Reach out to these primary contacts for questions about participation or study logistics.

Freya Droege, MD

Role: CONTACT

Phone: 0049201 723

Email: [email protected]

Anna Wrobeln, PhD

Role: CONTACT

Phone: 0049201 723

Email: [email protected]

Facility Contacts

Find local site contact details for specific facilities participating in the trial.

Freya Droege, MD

Role: primary

References

Explore related publications, articles, or registry entries linked to this study.

Kjeldsen AD, Vase P, Green A. [Hereditary hemorrhagic telangiectasia. A population-based study on prevalence and mortality among Danish HHT patients]. Ugeskr Laeger. 2000 Jun 19;162(25):3597-601. Danish.

Reference Type BACKGROUND
PMID: 11016284 (View on PubMed)

Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJ, Kjeldsen AD, Plauchu H. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet. 2000 Mar 6;91(1):66-7. doi: 10.1002/(sici)1096-8628(20000306)91:13.0.co;2-p.

Reference Type BACKGROUND
PMID: 10751092 (View on PubMed)

Sanchez-Elsner T, Botella LM, Velasco B, Corbi A, Attisano L, Bernabeu C. Synergistic cooperation between hypoxia and transforming growth factor-beta pathways on human vascular endothelial growth factor gene expression. J Biol Chem. 2001 Oct 19;276(42):38527-35. doi: 10.1074/jbc.M104536200. Epub 2001 Aug 2.

Reference Type BACKGROUND
PMID: 11486006 (View on PubMed)

Park SO, Wankhede M, Lee YJ, Choi EJ, Fliess N, Choe SW, Oh SH, Walter G, Raizada MK, Sorg BS, Oh SP. Real-time imaging of de novo arteriovenous malformation in a mouse model of hereditary hemorrhagic telangiectasia. J Clin Invest. 2009 Nov;119(11):3487-96. doi: 10.1172/JCI39482. Epub 2009 Oct 1.

Reference Type BACKGROUND
PMID: 19805914 (View on PubMed)

Attisano L, Wrana JL. Smads as transcriptional co-modulators. Curr Opin Cell Biol. 2000 Apr;12(2):235-43. doi: 10.1016/s0955-0674(99)00081-2.

Reference Type BACKGROUND
PMID: 10712925 (View on PubMed)

Other Identifiers

Review additional registry numbers or institutional identifiers associated with this trial.

HIF in HHT

Identifier Type: -

Identifier Source: org_study_id