Hereditary Hemorrhagic TelangiectasiaNCT07826845
Body Donation in HHT
A study testing body donation in HHT in people with Hereditary Hemorrhagic Telangiectasia, run by University Hospital, Essen at 1 site in Germany.
Trial summary
The possibility of body donation in hereditary hemorrhagic telangiectasia (HHT) means that human tissue samples with and without vascular malformations can be analyzed. The aim is to gain insights into the disease mechanism. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Hereditary Hemorrhagic Telangiectasia
- What is being tested?
- body donation in HHT
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 5 participants
- Where
- 1 siteGermany
- Study dates
- 1 Oct 2025to 31 Dec 2031
- Phase
- Interventional
- 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
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- positiv genetic testing for HHT and/ or at least three fulfilled Curacao Criteria
- older than 18 years
Who cannot join
- missing inclusion criteria
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
Institut für Anatomie und Klinik für HNO-Heilkunde, Universitätsklinik Essen
Essen, North Rhine-Westphalia, 45147
Freya Droege, 00492017232386, freya.droege@uk-essen.de
About this study
The possibility of body donation in hereditary hemorrhagic telangiectasia (HHT) means that human tissue samples with and without vascular malformations can be analyzed. The aim is to gain insights into the disease mechanism.
Read the detailed description
HHT is also known as Osler's disease or Rendu-Osler-Weber syndrome and is inherited in an autosomal dominant manner. With a prevalence of 1 in 5,000 - 10,000 people, it is one of the relatively common rare diseases. In terms of molecular biology, affected individuals have a disorder of physiological angiogenesis, resulting in pathological vascular connections, so-called arteriovenous malformations. In principle, vascular changes in the context of HHT can affect all organ systems, but there are various predilection sites such as the skin and mucous membranes, liver, lungs, gastrointestinal tract and brain.
In preliminary work, we were able to show that in addition to the known mutations in the TGFβ signaling pathway, further trauma or previously unknown events must occur locally in order for the vascular short circuits to form. However, the exact disease mechanisms are still unclear. Obtaining human tissue samples is difficult due to ethical concerns (taking samples from living patients could lead to a worsening of the disease). The aim of this project is to analyze structural changes in tissue samples with and without vascular malformations.
- Conditions
- Hereditary Hemorrhagic Telangiectasia
- Being tested
- body donation in HHT
- 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.
body donation in HHTOther
Body donation in HHT
| Study group | Role | What they receive |
|---|---|---|
| HHT Patients | Other | Patients with HHT Receives: Other: body donation in HHT |
What is being measured
The primary outcome is the main question the study is designed to answer.
Differences in immune and endothelial cells in tissue with and without telangiectasia in HHT
Analysis of the differences in tissue with and without telangiectasia in HHT, e.g. immunfluorescence staining of tissue / bone with endoglin-/ alk 1- antibodies and quantitative analysis of endoglin/ alk1 lacking cells such as immune cells or endothelial cells
Measured: after the patients who gave informed consent died their body will be donated to the Institute of Anatomy of the University Hospital Essen, samples will be taken until the body is cremated (regularly within 12 months)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted17 Sep 2026
- Study start1 Oct 2025
- Primary completion31 Dec 2030 (estimated)
- Study completion31 Dec 2031 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Basic science
- Allocation
- Not applicable
- Intervention model
- Single group
- Model description
- Genetic analyses (e.g. using qPCR, analyses of the genome and transcriptome), protein analyses (e.g. using Western blot) and immunohistochemical analyses (cryo- and PFA-fixed) of tissue samples from various organs will be carried out. Genome editing (e.g. using CRISPR/Cas9) will be applied. It is planned, for example, to generate human induced pluripotent stem cells (hiPSCs) from the biomaterials (in particular from fibroblasts and blood cells (PBMCs)). In addition, morphological imaging (3D) of the organs (including lungs and brain) is planned.
- Masking
- None (open label)
- Enrolment
- 5 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Essen
- Sponsor type
- University, hospital or other
- Collaborators
- University Hospital Marburg, Johannes Gutenberg University Mainz
- Responsible party
- Principal investigator, Freya Droege, University Hospital, Essen
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07826845
- Sponsor's protocol ID
- Body donation in HHT
- Status last verified
- Sep 2026
- First submitted
- 25 Mar 2025
- Last updated
- 17 Sep 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: on reasonable request, anonymously
Study at a glance
From the registry record, last updated by the sponsor on 17 Sep 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Body Donation in HHT
- ClinicalTrials.gov ID
- NCT07826845
- Acronym / sponsor ID
- Body donation in HHT
- Conditions
- Hereditary Hemorrhagic Telangiectasia
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 5 participants (estimated)
- Lead sponsor
- University Hospital, EssenUniversity, hospital or other
- Collaborators
- University Hospital Marburg, Johannes Gutenberg University Mainz
- Study start
- 1 Oct 2025 (actual)
- Primary completion
- 31 Dec 2030 (estimated)
- Study completion
- 31 Dec 2031 (estimated)
- First posted
- 17 Sep 2026 (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.
The possibility of body donation in hereditary hemorrhagic telangiectasia (HHT) means that human tissue samples with and without vascular malformations can be analyzed. The aim is to gain insights into the disease mechanism.
Detailed description
HHT is also known as Osler's disease or Rendu-Osler-Weber syndrome and is inherited in an autosomal dominant manner. With a prevalence of 1 in 5,000 - 10,000 people, it is one of the relatively common rare diseases. In terms of molecular biology, affected individuals have a disorder of physiological angiogenesis, resulting in pathological vascular connections, so-called arteriovenous malformations. In principle, vascular changes in the context of HHT can affect all organ systems, but there are various predilection sites such as the skin and mucous membranes, liver, lungs, gastrointestinal tract and brain.
In preliminary work, we were able to show that in addition to the known mutations in the TGFβ signaling pathway, further trauma or previously unknown events must occur locally in order for the vascular short circuits to form. However, the exact disease mechanisms are still unclear. Obtaining human tissue samples is difficult due to ethical concerns (taking samples from living patients could lead to a worsening of the disease). The aim of this project is to analyze structural changes in tissue samples with and without vascular malformations.
Study design
- Primary purpose
- Basic science
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
- Model description
- Genetic analyses (e.g. using qPCR, analyses of the genome and transcriptome), protein analyses (e.g. using Western blot) and immunohistochemical analyses (cryo- and PFA-fixed) of tissue samples from various organs will be carried out. Genome editing (e.g. using CRISPR/Cas9) will be applied. It is planned, for example, to generate human induced pluripotent stem cells (hiPSCs) from the biomaterials (in particular from fibroblasts and blood cells (PBMCs)). In addition, morphological imaging (3D) of the organs (including lungs and brain) is planned.
| Arm | Type | Receives |
|---|---|---|
| HHT Patients | Other | Other: body donation in HHTPatients with HHT |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (2 listed)
- positiv genetic testing for HHT and/ or at least three fulfilled Curacao Criteria
- older than 18 years
Key exclusion criteria (1 listed)
- missing inclusion criteria
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 |
|---|---|---|
| body donation in HHTBody donation in HHT | Other | HHT Patients |
Primary outcome
Differences in immune and endothelial cells in tissue with and without telangiectasia in HHT
Time frame: after the patients who gave informed consent died their body will be donated to the Institute of Anatomy of the University Hospital Essen, samples will be taken until the body is cremated (regularly within 12 months)
Analysis of the differences in tissue with and without telangiectasia in HHT, e.g. immunfluorescence staining of tissue / bone with endoglin-/ alk 1- antibodies and quantitative analysis of endoglin/ alk1 lacking cells such as immune cells or endothelial cells
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 17 Sep 2026.
- Individual participant dataSharing planned: Yes. on reasonable request, anonymously
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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.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing body donation in HHT in people with 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 2 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 17 Sep 2026. 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 (0049201723 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 immune and endothelial cells in tissue with and without telangiectasia in HHT (time frame: after the patients who gave informed consent died their body will be donated to the Institute of Anatomy of the University Hospital Essen, samples will be taken until the body is cremated (regularly within 12 months)). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 17 Sep 2026; AzTrials last refreshed its copy on 26 Oct 2026.