Influence of Hypoxic Induced Factors in Patients With Hereditary Hemorrhagic Telangiectasia

NCT04469517 | Recruiting

• 1 other identifier: HIF in HHT
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 1

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.

Conditions

Hereditary Hemorrhagic Telangiectasia

Keywords

hereditary hemorrhagic telangiectasia

Outcome Measures

Primary Outcomes (1)

• Differences in hypoxic induced factors

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

  12 months

Secondary Outcomes (1)

• Correlation of level of hypoxic induced factors and disease severity

  12 months

Study Arms (2)

HHT

patients with HHT

Other: hypoxic induced factors

control

persons age- and sex matched who do not suffer from HHT nor their first or second degree relatives

Other: hypoxic induced factors

Interventions

hypoxic induced factors OTHER

hypoxic induced factors analyzed in blood sample

HHT; control

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with diagnosed hereditary hemorrhagic telangiectasie (HHT)

You may qualify if:

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

Sponsors & Collaborators

• University Hospital, Essen: lead

Study Sites (1)

University Hospital Essen

Essen, North Rhine-Westphalia, 45147, Germany

RECRUITING

Related Publications (5)

• 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.

  PMID: 11016284 BACKGROUND

• 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.

  PMID: 10751092 BACKGROUND

• 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.

  PMID: 11486006 BACKGROUND

• 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.

  PMID: 19805914 BACKGROUND

• 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.

  PMID: 10712925 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

Blood sample

MeSH Terms

Conditions

Telangiectasia, Hereditary Hemorrhagic

Condition Hierarchy (Ancestors)

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

Study Officials

• Freya Droege, MD

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

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Freya Droege, MD

CONTACT

0049201 723; freya.droege@uk-essen.de

Anna Wrobeln, PhD

CONTACT

0049201 723; anna.wrobeln@uk-essen.de

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Target Duration: 12 Months
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principle Investigator, Speaker of Westgerman HHT Center

Study Record Dates

• First Submitted: July 8, 2020
• First Posted: July 14, 2020
• Study Start: August 10, 2020
• Primary Completion: December 31, 2025
• Study Completion (Estimated): October 1, 2026
• Last Updated: December 6, 2024

Record last verified: 2024-12

Data Sharing

• IPD Sharing: Will not share

Locations

DE (1)