Hereditary Hemorrhagic Telangiectasia (HHT) Research Outcomes Registry

Abstract

HHT has an estimated prevalence of 1 in 5000, affecting children and adults, in multiple organs. The disease is characterized by the presence of vascular malformations (VMs), including arteriovenous malformations (AVMs) of the lung, liver, brain, spinal cord and smaller mucosal lesions (telangiectasia)of the nose, mouth and GI tract. The purpose of this study is to prospectively and longitudinally characterize major outcomes of Hereditary Hemorrhagic Telangiectasia (HHT), including frequent symptoms (epistaxis, migraines, etc.) as well as severe complications (death, stroke, heart failure, anemia, etc.), and identify their determinants. Furthermore, to identify predictors of epidemic/pandemic infections amongst HHT patients and the effects on; epistaxis (severity, topical nasal medication, nasal intervention, etc); disease severity (hospital admission, requiring ventilation, venous thromboembolism, death); HHT outcome and care (health care utilization, access to care, screening, preventative treatment).

Baseline clinical and demographic data will be collected from participating HHT patients along with annual outcomes data, and entered into the Our HHT registry. For subjects who agree to give a saliva sample, the goal is to create a DNA repository of HHT subjects as a resource for future genetic, pharmacogenetics and targeted therapy studies and replicate and further characterize genetic associations with HHT phenotypes

Related PAFs: 18-PAF08760, Multidisciplinary HHT Care through HemophiliaTreatment Centers: A Pilot Project

Direct Sponsor: CureHHT

Related Awards: AWD016993 (9/30/2019 -9/29/2021), AWD012515 (9/30/2015 -9/29/2020)

Related UFAs: 22-UFA01123 (OUR HHT Registry, Active, Data Use Agreement, 11/1/2021-1/1/2030), 22-UFA01143 (OUR HHT Registry, UFA Hold, Material Transfer Agreement)