Influence of Hypoxic Induced Factors in Patients With Hereditary Hemorrhagic Telangiectasia (HHT)
Status: Recruiting
Location: See location...
Intervention Type: Other
Study Type: Observational
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. 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.
Eligibility
Participation Requirements
Sex: All
Minimum Age: 18
Healthy Volunteers: t
View:
• diagnosed HHT (genetic testing and/ or fulfill at least 3 Curacao Criteria)
• older than 17 years
• ability to consent
Locations
Other Locations
Germany
University Hospital Essen
RECRUITING
Essen
Contact Information
Primary
Freya Droege, MD
freya.droege@uk-essen.de
0049201 723
Backup
Anna Wrobeln, PhD
anna.wrobeln@uk-essen.de
0049201 723
Time Frame
Start Date: 2020-08-10
Estimated Completion Date: 2026-10-01
Participants
Target number of participants: 100
Treatments
HHT
patients with HHT
control
persons age- and sex matched who do not suffer from HHT nor their first or second degree relatives
Related Therapeutic Areas
Sponsors
Leads: University Hospital, Essen