Hereditary Hemorrhagic TelangiectasiaNCT04469517
Influence of Hypoxic Induced Factors in Patients With Hereditary Hemorrhagic Telangiectasia
An observational study of Hereditary Hemorrhagic Telangiectasia, run by University Hospital, Essen at 1 site in Germany.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Hereditary Hemorrhagic Telangiectasia
- What is being tested?
- hypoxic induced factors
- How many people
- 100 participants
- Where
- 1 siteGermany
- Study dates
- 10 Aug 2020to 1 Oct 2026
- How long will I take part?
- 12 Months
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: Patients with diagnosed hereditary hemorrhagic telangiectasie (HHT)
Who may be able to join
- diagnosed HHT (genetic testing and/ or fulfill at least 3 Curacao Criteria)
- older than 17 years
- ability to consent
Who cannot join
- if inclusion Criteria are not met
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Germany1 site, 1 recruiting
- Recruiting
University Hospital Essen
Essen, North Rhine-Westphalia, 45147
Freya Droege, MD, 0049201723 ext. 2481, freya.droege@uk-essen.de
About this study
Official title: Influence of Hypoxic Induced Factors in Patients With Hereditary Hemorrhagic Telangiectasia (HHT)
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.
- Conditions
- Hereditary Hemorrhagic Telangiectasia
- Being tested
- hypoxic induced factors
- Keywords
- hereditary hemorrhagic telangiectasia
- Medical subject headings
- Telangiectasia, Hereditary Hemorrhagic
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
hypoxic induced factorsOther
hypoxic induced factors analyzed in blood sample
| Study group | Role | What they receive |
|---|---|---|
| HHT | patients with HHT Receives: Other: hypoxic induced factors | |
| control | persons age- and sex matched who do not suffer from HHT nor their first or second degree relatives Receives: Other: hypoxic induced factors |
What is being measured
The primary outcome is the main question the study is designed to answer.
Differences in hypoxic induced factors
Differences in hypoxic induced factors analyzed in blood samples from patients with HHT and healthy controls
Measured: 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
Measured: 12 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Jul 2020
- Study start10 Aug 2020
- Primary completion31 Dec 2025 (estimated)
- Study completion1 Oct 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (5)Papers the sponsor has linked to this study.
- Other trials for Hereditary Hemorrhagic TelangiectasiaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 100 participants (estimated)
- Target duration
- 12 Months
Sponsor and investigators
- Lead sponsor
- University Hospital, Essen
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Freya Droege, University Hospital, Essen
- Investigators
- Freya Droege, MD, Principal investigator, University hospital Essen Otorhinolaryngology, Hufelandstr. 55, 45147 Essen, Germany
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04469517
- Sponsor's protocol ID
- HIF in HHT
- Status last verified
- Dec 2024
- First submitted
- 8 Jul 2020
- Last updated
- 6 Dec 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
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 11016284Shovlin 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 10751092Sanchez-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 11486006Park 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 19805914Attisano 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
Study at a glance
From the registry record, last updated by the sponsor on 6 Dec 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Influence of Hypoxic Induced Factors in Patients With Hereditary Hemorrhagic Telangiectasia (HHT)
- ClinicalTrials.gov ID
- NCT04469517
- Acronym / sponsor ID
- HIF in HHT
- Conditions
- Hereditary Hemorrhagic Telangiectasia
- Keywords
- hereditary hemorrhagic telangiectasia
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- University Hospital, EssenUniversity, hospital or other
- Study start
- 10 Aug 2020 (actual)
- Primary completion
- 31 Dec 2025 (estimated)
- Study completion
- 1 Oct 2026 (estimated)
- First posted
- 14 Jul 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
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
- Observational model
- Case-control
- Time perspective
- Prospective
- Target follow-up
- 12 Months
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| HHT | – | Other: hypoxic induced factorspatients with HHT |
| control | – | Other: hypoxic induced factorspersons age- and sex matched who do not suffer from HHT nor their first or second degree relatives |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- Patients with diagnosed hereditary hemorrhagic telangiectasie (HHT)
Key inclusion criteria (3 listed)
- diagnosed HHT (genetic testing and/ or fulfill at least 3 Curacao Criteria)
- older than 17 years
- ability to consent
Key exclusion criteria (1 listed)
- if inclusion Criteria are not met
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| hypoxic induced factorshypoxic induced factors analyzed in blood sample | Other | HHT, control |
Primary outcome
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
1 secondary outcome
Correlation of level of hypoxic induced factors and disease severity
Time frame: 12 months
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Dec 2024.
- Background: PubMed 11016284Kjeldsen 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.
- Background: PubMed 10751092Shovlin 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.
- Background: PubMed 11486006Sanchez-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.
- Background: PubMed 19805914Park 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.
- Background: PubMed 10712925Attisano 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.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Freya Droege, MD principal investigator
University hospital Essen Otorhinolaryngology, Hufelandstr. 55, 45147 Essen, Germany
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Hereditary Hemorrhagic Telangiectasia, run by University Hospital, Essen at 1 site in Germany.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 6 Dec 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Germany. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Freya Droege, MD (0049201 723 ext. 2481, freya.droege@uk-essen.de), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Differences in hypoxic induced factors (time frame: 12 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT04469517, which also lists 5 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 6 Dec 2024.