Body Donation in HHT

NCT07826845 | Recruiting DMC

• 1 other identifier: Body donation in HHT
• Study Type: interventional
• Target: 5
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Hereditary Hemorrhagic Telangiectasia

Outcome Measures

Primary Outcomes (1)

• 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

  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)

Study Arms (1)

HHT Patients

OTHER

Patients with HHT

Other: body donation in HHT

Interventions

body donation in HHT OTHER

Body donation in HHT

HHT Patients

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

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

Sponsors & Collaborators

• University Hospital, Essen: lead
• University Hospital Marburg: collaborator
• Johannes Gutenberg University Mainz: collaborator

Study Sites (1)

Institut für Anatomie und Klinik für HNO-Heilkunde, Universitätsklinik Essen

Essen, North Rhine-Westphalia, 45147, Germany

RECRUITING

MeSH Terms

Conditions

Telangiectasia, Hereditary Hemorrhagic

Condition Hierarchy (Ancestors)

Hemostatic Disorders; Vascular Diseases; Cardiovascular Diseases; Telangiectasis; Hemorrhagic Disorders; Hematologic Diseases; Hemic and Lymphatic Diseases; Vascular Malformations; Cardiovascular Abnormalities; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Central Study Contacts

Freya Droege

CONTACT

0049201723; freya.droege@uk-essen.de

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: BASIC SCIENCE
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: PD Dr. med. Freya Droege, Principle Investigator

Model Details: 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.

Study Record Dates

• First Submitted: March 25, 2025
• First Posted: September 17, 2026
• Study Start: October 1, 2025
• Primary Completion (Estimated): December 31, 2030
• Study Completion (Estimated): December 31, 2031
• Last Updated: September 17, 2026

Record last verified: 2026-09

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, ICF
• Time Frame: after publishing for up to 5 years
• Access Criteria: on reasonable request, anonymously

Locations

DE (1)