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

Hereditary Hemorrhagic Telangiectasia (HHT) Research Outcomes 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.

Study Overview

• Status: Active, not recruiting
• Conditions: Hereditary Hemorrhagic Telangiectasia; HHT; Arteriovenous Malformation of Brain
• Intervention / Treatment: Other: Registry and Saliva sample

Detailed Description

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.

• Study Type: Observational
• Enrollment (Actual): 296

Contacts and Locations

Study Locations

• Canada
  • Ontario
    • Toronto, Ontario, Canada, M5B1W8
      • St. Michael's Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Probability Sample

Study Population

Subjects with Hereditary Hemorrhagic Telangiectasia (HHT), living in North America

Description

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

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

What is the study measuring?

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

Other Outcome Measures

Outcome Measure	Measure Description	Time Frame
Participant entered data	Data collection from participant relating symptoms and knowledge of HHT	10 Years

Collaborators and Investigators

• Sponsor: Unity Health Toronto
• Collaborators: Dartmouth College; Cure HHT
• Investigators: Principal Investigator: Marie E Faughnan, MD, Unity Health Toronto

Study record dates

Study Major Dates

• Study Start (Actual): November 1, 2018
• Primary Completion (Actual): June 23, 2023
• Study Completion (Estimated): June 30, 2028

Study Registration Dates

• First Submitted: September 18, 2019
• First Submitted That Met QC Criteria: October 31, 2019
• First Posted (Actual): November 5, 2019

Study Record Updates

• Last Update Posted (Actual): April 22, 2026
• Last Update Submitted That Met QC Criteria: April 20, 2026
• Last Verified: April 1, 2026

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Vascular Diseases; Cardiovascular Diseases; Hematologic Diseases; Congenital Abnormalities; Cardiovascular Abnormalities; Hemostatic Disorders; Hemorrhagic Disorders; Vascular Malformations; Telangiectasis; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Telangiectasia, Hereditary Hemorrhagic; Arteriovenous Malformations; Organization and Administration; Health Services Administration; Health Care Quality, Access, and Evaluation; Investigative Techniques; Epidemiologic Methods; Data Collection; Health Care Evaluation Mechanisms; Quality of Health Care; Public Health; Environment and Public Health; Records; Registries
• Other Study ID Numbers: OURHHT

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No