An interventional study of body donation in HHT in Hereditary Hemorrhagic Telangiectasia, sponsored by University Hospital, Essen. Recruiting at 1 site in Germany. Open to participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2026-09-17.
Sponsored by University Hospital, Essen · Not applicable, Interventional, and Basic science
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.
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.
106 studies on the registry are indexed under Telangiectasia, Hereditary Hemorrhagic; 24 are open to participants now.
This study's planned enrollment of 5 is below the median of 33 across 61 interventional studies indexed under Telangiectasia, Hereditary Hemorrhagic.
Browse Telangiectasia, Hereditary Hemorrhagic studies →University Hospital, Essen is the lead sponsor of 118 studies on the registry; 35 are open to participants now.
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Exclusion Criteria:
Patients with HHT
Other: body donation in HHT
Body donation in HHT
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
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)
Plan to share: Yes — on reasonable request, anonymously
Supporting information: Study protocol, Informed consent form
Time frame: after publishing for up to 5 years
Access criteria: on reasonable request, anonymously
No publications or documents are linked to this record.
Started Oct 2025 (actual). Primary completion is estimated for Dec 2030, 62 months after the start.
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Telangiectasia, Hereditary Hemorrhagic →