Hereditary Hemorrhagic Telangiectasia (HHT) Research Outcomes Registry

Study Overview
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Brief Summary
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The goal of this study is to better understand HHT, the symptoms and complications it causes (outcomes) and how the disease impacts people's lives. The investigators are aiming to recruit and gather information together in the Registry from 1,000 HHT patients from four HHT Centres of Excellence in North America. The Investigators will collect long-term information about the people in the Registry, allowing the investigators to understand how the disease changes over time, and what factors can influence those changes. Ultimately, this should help improve treatments for the disease.

Detailed Description
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Background and Rationale 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. These lesions lead to acute and chronic bleeding, stroke, heart failure and death. Treatments are currently mostly limited to managing complications, while approximately 90% of adults have ongoing symptoms, despite best surgical and medical therapies. With recent drug development related to angiogenesis, there is hope for effective novel therapies. Investigators, experts, the International HHT Guidelines, Pharma representatives, the CDC and HHT patient advocates (curehht.org) all agree that there is an urgent need for natural history data in this disease, with characterization of clinical outcomes, to allow patients to benefit from the explosion of drug development in the field.

Official Title
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Hereditary Hemorrhagic Telangiectasia (HHT) Research Outcomes Registry

Conditions
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Hereditary Hemorrhagic Telangiectasia, HHT, Arteriovenous Malformation of Brain

Intervention / Treatment
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* Other: Registry and Saliva sample


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Participants diagnosed with HHT by the Curacao criteria (either 3+ clinical diagnostic criteria or genetic diagnosis). Capable of giving informed consent in person or via a substitute decision maker >18 years Exclusion Criteria: Participants unable to give informed consent either in person or with a substitute decision maker

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Intervention/Treatment |
| --- |
|Other: Registry and Saliva sample|Non-interventional registry with saliva sample collected for DNA analysis|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Prospective and longitudinal characterization of major outcomes of HHT in a cohort of HHT patients, from Centers of Excellence in North America. | Comprehensive baseline clinical, demographic and lifestyle data will be collected and entered into the recruitment-ready newly developed OUR HHT Registry. | 10 Years | 
| The longitudinal characterization of major outcomes of HHT in the North American cohort | Annual outcome data will be collected and entered into the recruitment-ready newly developed OUR HHT Registry. | 10 Years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Characterizing the determinants of HHT by prospectively and longitudinally measuring the rates of clinical outcome of HHT | The rates of severe complications of HHT will be measured and their determinants characterized. | 10 Years | 
| Epistaxis which affects 90% of adults with HHT, will be characterized by measuring the rates of clinical outcome. | The characteristics and determinants of epistaxis will be studied. | 10 Years | 
| The prospective development of organ VMs in HHT patients | Development of new VMs/growth of VMs and its determinants will be measured. | 10 Years | 
| The rates of venous thromboembolism (VTE) in HHT patients | The rates and determinants of venous thromboembolism in HHT patients will be measured prospectively. | 10 Years | 
| A DNA repository of HHT subjects will be created as a resource for future genetic, pharmacogenetics and targeted therapy studies. | Saliva samples of all recruited subjects will collected to create a DNA repository | 10 Years |