cerebral-arteriovenous-malformation hereditary-hemorrhagic-telangiectasia
Conditions
Interventions
None listed
Sponsors
Sint Antonius Ziekenhuis
Eligibility
Age
18 Years to 99 Years
Inclusion criteria
Inclusion criteria: Patients with clinical and/or genetic confirmed HHT with or without BAVM
Exclusion criteria
Exclusion criteria: none
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| To identify predictors of brain outcomes in HHT patients. We propose to leverage our multicenter network of HHT Centers to characterize comprehensive brain outcomes. We hypothesize that the presence of BAVMs (vs. HHT patients without BAVMs) and multiplicity of BAVMs will be associated with worsening functional outcome. We will use the modified Rankin Score (mRS) to measure the functional outcome. Furthermore to define a severe bleeding phenotype in HHT for clinical trial readiness. We hypothesize that weekly nasal bleeding duration (Patient-Reported Outcome Cumulative nasal Bleeding duration, or PRO-CB) in HHT will predict the need for invasive or life-sustaining therapies (surgery, urgent packing, blood transfusions, iron infusions). We propose to measure PRO-CB longitudinally in HHT patients and correlate with the need for invasive or life-sustaining therapies (primary outcome), as well as with ICH risk from BAVMs and with bleeding in other HHT organ phenotypes (including pulmonary AVMs and GI telangiectasia). | — |
Secondary
| Measure | Time frame |
|---|---|
| To identify genetic predictors and circulating biomarkers of severe bleeding and brain outcomes in HHT. We hypothesize that there are shared predictors of severe bleeding from the nose and brain in HHT patients, and that identifying these predictors will allow for selection of *at-risk* patients for clinical trials. Specifically, we will evaluate potential genetic, plasma protein biomarker and circulating miRNA biomarker predictors of PRO-CB. Markers associated with PRO-CB will then be tested for association with ICH, and with other brain outcomes and HHT severity phenotypes. | — |
Countries
Netherlands
Outcome results
None listed