ClinicalTrials.gg
RecruitingNCT04469517Updated Dec 6, 2024

Influence of Hypoxic Induced Factors in Patients With Hereditary Hemorrhagic Telangiectasia

An observational study in Hereditary Hemorrhagic Telangiectasia, sponsored by University Hospital, Essen. Recruiting at 1 site in Germany. Open to participants aged 18 Years and older, including healthy volunteers. Per ClinicalTrials.gov, last updated 2024-12-06.

Sponsored by University Hospital, Essen · Observational

From the registry’s dates

  • Primary completion was expected by Dec 2025, 10 months ago, but the record still lists the study as recruiting.
  • Started Aug 2020; still recruiting 6 years 3 months later.

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Study type
Observational
Model
Case-control
Time perspective
Prospective
Enrollment
100
Ages
18 Years and older
Sex
All
01

Where this study stands

Counted across the records on this site · 2026-11-14

Among 10 studies in Telangiectasia, Hereditary Hemorrhagic with a site in Germany — 4 open to participants now, 6 under way, 1 of them phase 3. Telangiectasia, Hereditary Hemorrhagic · Germany.

Started
2020
the only one that year
Observational
6 of 10
2 open now
Registered
6th of 10
by date
Lead sponsor
7 of 10
University Hospital, Essen

Among the 10 studies in Telangiectasia, Hereditary Hemorrhagic with a site in Germany, this one is the only one that started in 2020, is one of 6 observational ones, and was the 6th registered.

Telangiectasia, Hereditary Hemorrhagic

106 studies on the registry are indexed under Telangiectasia, Hereditary Hemorrhagic; 24 are open to participants now.

Browse Telangiectasia, Hereditary Hemorrhagic studies →

Open to participants now

4 of the 10 studies in Telangiectasia, Hereditary Hemorrhagic with a site in Germany are open now. Recruiting first, the newest first:

All 4 open studies →

A study can be open while its sites in Germany have not opened yet or have stopped. Only those recruiting at a site in Germany →

Who these studies take

Of the 17 Telangiectasia, Hereditary Hemorrhagic studies recruiting now, 14 (82%) set no upper age limit and 2 (12%) stop at 75 or younger; 6 take children under 18; 3 take healthy volunteers.

This study: 18 Years and older · all sexes · healthy volunteers too.

The full table on the hub →

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Watch this landscapeDownload CSVNarrow it in search →With an account: a weekly mail of what changed among 10 studies in Telangiectasia, Hereditary Hemorrhagic with a site in Germany, or all of them as a file.
02

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.

Read the 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.

03

Conditions studied

  • Hereditary Hemorrhagic Telangiectasia

Keywords

  • hereditary hemorrhagic telangiectasia
04

Who can participate

Ages eligible
18 Years and older
Sexes eligible
All
Accepts healthy volunteers
Yes
Sampling method
Non-probability sample

Study population

Patients with diagnosed hereditary hemorrhagic telangiectasie (HHT)

Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.

Inclusion criteria

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

Exclusion criteria

Exclusion Criteria:

  • if inclusion Criteria are not met
05

Study design

Observational model
Case-control
Time perspective
Prospective
Enrollment
100 participants (estimated)
Target follow-up
12 Months
Patient registry
Yes
Biospecimen retention
Samples with dna

Groups and cohorts

  • 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

  • Otherhypoxic induced factors

    hypoxic induced factors analyzed in blood sample

06

What researchers measure

Primary outcomes

  1. Differences in hypoxic induced factors

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

    Time frame: 12 months

Secondary outcomes

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

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

    Time frame: 12 months

07

Study locations

1 of 1 sites recruiting
08

References and documents

Publications

  • 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. PubMed 11016284 ↗
  • 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. PubMed 10751092 ↗
  • 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. PubMed 11486006 ↗
  • 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. PubMed 19805914 ↗
  • 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. PubMed 10712925 ↗

Individual participant data

Plan to share: No

09

Timeline

Tracking since Sep 25, 2026
ElapsedEstimatedEstimated, not yet reachedSimilar studies: half by the dot; the band is the middle halfHalf of similar studies reached it by the dot; the band is the middle half, from a quarter to three quarters

Started Aug 2020 (actual). Primary completion is estimated for Dec 2025, 64 months after the start.

Of 23 observational studies under Telangiectasia, Hereditary Hemorrhagic, half reached primary completion within 56 months of starting (the median), counting those still running; a quarter within 36 and three quarters within 184. This study's planned 64 months is above that.

How these figures are worked out, and which studies are left out of them.

Registered
Jul 8, 2020
First posted
Jul 14, 2020
StartActual
Aug 10, 2020
Primary completionEst.
Dec 31, 2025
CompletionEst.
Oct 1, 2026
Last update
Dec 6, 2024
What these dates mean
Start.
When the first participant enrolled; while estimated, when the study expects to open to recruitment.
Primary completion.
When the last participant was examined or treated to collect data for the study's main question, its primary outcome. A study that stopped early gives the date its data collection stopped.
Completion.
When the last participant's last visit took place, for every outcome, secondary ones and side effects included: the end of the study. Often later than primary completion, sometimes the same day.
Actual and Est.
Actual means the registry says the date has happened. Est. (estimated) is a date the sponsor plans or expects. It can still move, and the sponsor is expected to change it to actual once it has passed.
No changes since tracking began. The registry record was last updated on Dec 6, 2024, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
10

Registry details

Key details

Study ID
NCT04469517
Responsible party
Freya Droege (Principle Investigator, Speaker of Westgerman HHT Center, University Hospital, Essen) — Principal investigator
First posted
Jul 14, 2020
Start date
Aug 10, 2020
Primary completion
Dec 31, 2025 (estimated)
Completion
Oct 1, 2026 (estimated)
Last update
Dec 6, 2024

Study contacts

Freya Droege, MD
Contact
freya.droege@uk-essen.de
0049201 723 ext. 2481
Anna Wrobeln, PhD
Contact
anna.wrobeln@uk-essen.de
0049201 723 ext. 4646
Freya Droege, MD
principal investigator · University hospital Essen Otorhinolaryngology, Hufelandstr. 55, 45147 Essen, Germany

Oversight

Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

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