Skip to main content
OpenTrials
Active, Not Recruiting

NCT Number: NCT04150822

CHORUS - Comprehensive HHT Outcomes Registry of the United States (Formerly OUR HHT Registry)

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.

Active, Not Recruiting

This study is active but is not currently recruiting participants.

Notify Me

Key information

Conditions

Hereditary Hemorrhagic Telangiectasia Arteriovenous Malformation of Brain Arteriovenous Malformations Cardiovascular Abnormalities Cardiovascular Diseases Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities HHT Hematologic Diseases Hemic and Lymphatic Diseases Hemorrhagic Disorders Hemostatic Disorders Telangiectasia, Hereditary Hemorrhagic Telangiectasis Vascular Diseases Vascular Malformations

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

St. Michael's Hospital

Toronto, Ontario, M5B1W8, Canada

About this study

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.

As of August 27, 2023, the OUR HHT Registry has transitioned to the CHORUS platform (Studytrax) for ongoing data collection. Only select CHORUS-funded sites are currently enrolling. The Toronto site has completed enrollment but remains active with REB approval.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Registry and Saliva sample

Other

Non-interventional registry with saliva sample collected for DNA analysis

Primary outcomes

  1. Prospective and longitudinal characterization of major outcomes of HHT in a cohort of HHT patients, from Centers of Excellence in North America.

    Time frame: 10 Years

    Comprehensive baseline clinical, demographic and lifestyle data will be collected and entered into the recruitment-ready newly developed OUR HHT Registry.

  2. The longitudinal characterization of major outcomes of HHT in the North American cohort

    Time frame: 10 Years

    Annual outcome data will be collected and entered into the recruitment-ready newly developed OUR HHT Registry.

Secondary outcomes

  1. Characterizing the determinants of HHT by prospectively and longitudinally measuring the rates of clinical outcome of HHT

    Time frame: 10 Years

    The rates of severe complications of HHT will be measured and their determinants characterized.

  2. Epistaxis which affects 90% of adults with HHT, will be characterized by measuring the rates of clinical outcome.

    Time frame: 10 Years

    The characteristics and determinants of epistaxis will be studied.

  3. The prospective development of organ VMs in HHT patients

    Time frame: 10 Years

    Development of new VMs/growth of VMs and its determinants will be measured.

  4. The rates of venous thromboembolism (VTE) in HHT patients

    Time frame: 10 Years

    The rates and determinants of venous thromboembolism in HHT patients will be measured prospectively.

  5. A DNA repository of HHT subjects will be created as a resource for future genetic, pharmacogenetics and targeted therapy studies.

    Time frame: 10 Years

    Saliva samples of all recruited subjects will collected to create a DNA repository

Other outcomes

  1. Participant entered data

    Time frame: 10 Years

    Data collection from participant relating symptoms and knowledge of HHT

Sponsors and collaborators

Lead sponsor

Unity Health Toronto

Other

Collaborators

  • Cure HHT
  • Dartmouth College

Registry information

Official study title

Hereditary Hemorrhagic Telangiectasia (HHT) Research Outcomes Registry

Important dates

Study start
2018
Primary completion
2023
Study completion
2028
First posted
Nov 5, 2019
Registry last updated
Apr 22, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Related clinical trials

Published trials that share one or more normalized conditions with this study.