Body Donation in HHT

September 14, 2026 updated by: Freya Droege, University Hospital, Essen
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.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

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 Type

Interventional

Enrollment (Estimated)

5

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • Germany
    • North Rhine-Westphalia
      • Essen, North Rhine-Westphalia, Germany, 45147
        • Recruiting
        • Institut für Anatomie und Klinik für HNO-Heilkunde, Universitätsklinik Essen
        • Contact:

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Description

Inclusion Criteria:

  • positiv genetic testing for HHT and/ or at least three fulfilled Curacao Criteria
  • older than 18 years

Exclusion Criteria:

  • missing inclusion criteria

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Basic Science
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Other: HHT Patients
Patients with HHT
Other: body donation in HHT
Body donation in HHT

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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
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)

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University Hospital, Essen

Collaborators

Johannes Gutenberg University Mainz
University Hospital Marburg

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

October 1, 2025

Primary Completion (Estimated)

December 31, 2030

Study Completion (Estimated)

December 31, 2031

Study Registration Dates

First Submitted

March 25, 2025

First Submitted That Met QC Criteria

September 14, 2026

First Posted (Actual)

September 17, 2026

Study Record Updates

Last Update Posted (Actual)

September 17, 2026

Last Update Submitted That Met QC Criteria

September 14, 2026

Last Verified

September 1, 2026

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • Body donation in HHT

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

YES

IPD Plan Description

on reasonable request, anonymously

IPD Sharing Time Frame

after publishing for up to 5 years

IPD Sharing Access Criteria

on reasonable request, anonymously

IPD Sharing Supporting Information Type

  • STUDY_PROTOCOL
  • ICF

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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