Comprehensive HHT Outcomes Registry of the United States (CHORUS) (CHORUS)

June 10, 2025 updated by: Cure HHT

CHORUS: Comprehensive HHT (Hereditary Hemorrhagic Telangiectasia) Outcomes Registry of the United States

The Comprehensive HHT Outcomes Registry of the United States (CHORUS) is an observational registry of patients diagnosed with Hereditary Hemorrhagic Telangiectasia (HHT). The purpose of this study is to better understand HHT, the symptoms and complications it causes, and the impact the disease has on people's lives. The investigators will collect long-term information about the participant, allowing us to understand how the disease changes over time, and what factors can influence those changes. Ultimately, this should help improve treatments for the disease.

Another important goal of the study is to provide a way to contact people to participate in future clinical trials and other research. The registry will be a centralized resource for recruitment for clinical trials. People in the registry will not be obligated to join any of these additional studies, but if interested, can agree to be contacted if they may be eligible for a study.

Participants will:

  • Be asked to provide permission to collect information from their medical records, including things like demographic information, diagnosis information, family history, test results, treatment information, symptoms, complications, lifestyle and other relevant medical information.
  • Be asked study-related questions by phone or at a clinic visit.
  • Be asked study-related questions every year after enrollment for up to 10 years or until the study ends. A member of the study team will communicate with participants by phone or at clinic visits to collect information regarding any changes to their health over the previous year/s including new test results, treatment information, symptoms, and complications from HHT.

Study Overview

Status

Recruiting

Conditions

Detailed Description

The Comprehensive HHT Outcomes Registry of the United States (CHORUS) is a research initiative led by the HHT Foundation International, Inc. ("Cure HHT"). The study focuses on Hereditary Hemorrhagic Telangiectasia (HHT), a rare genetic disorder characterized by the development of abnormal blood vessels in various organs of the body, including the brain, spine, lungs, liver, GI tract, skin, nasal mucosa, and oral cavity. The prevalence of HHT is estimated to be 1 in 5000, affecting children and adults. These abnormal blood vessels can lead to acute and chronic bleeding, stroke, heart failure, and death. Treatments are currently predominately limited to managing complications, while approximately 90% of adults have ongoing symptoms, despite the best surgical and medical therapies. With recent drug developments related to angiogenesis, there is hope for effective novel therapies.

A natural history registry for HHT has significant implications for improving the understanding and management of this rare genetic disorder. The purpose of this study is to better understand HHT, the symptoms and complications it causes ("outcomes"), and to understand how the disease impacts people's lives. The investigators hypothesize that a natural history registry for HHT will improve our understanding of the disease, lead to better management of patients, and ultimately, contribute to developing novel therapies to treat this disease.

The investigators will collaborate with multiple HHT Centers of Excellence across the U.S. to establish a comprehensive registry of HHT patients. The study aims to enroll approximately 10,000 HHT patients over a 10-year period. Longitudinal data will be collected both retrospectively and prospectively, with a focus on increasing the understanding of this rare disease, accelerating the development of new diagnostic and treatment options, and working collaboratively with clinicians who care for individuals with HHT to identify and address gaps in the system of care, especially those from underserved populations.

The study aims to serve as a centralized resource for future clinical trials and research in HHT. Data security and confidentiality are prioritized, and participants have the option to withdraw from the study at any time. The study is funded by the U.S. Department of Health Resources and Service Administration (HRSA) through a grant awarded to Cure HHT.

Study Type

Observational

Enrollment (Estimated)

10000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • United States
    • Alabama
      • Birmingham, Alabama, United States, 35294
        • Recruiting
        • University of Alabama at Birmingham
        • Contact:
        • Principal Investigator:
          • Jesse Jones, MD
        • Contact:
    • California
      • Los Angeles, California, United States, 90095
        • Recruiting
        • University of California, Los Angeles
        • Contact:
        • Principal Investigator:
          • Justin McWilliams, MD
        • Sub-Investigator:
          • Lucas Cusumano, MD
        • Contact:
      • San Francisco, California, United States, 94107
        • Recruiting
        • University of California, San Francisco
        • Principal Investigator:
          • Steven Hetts, MD
        • Sub-Investigator:
          • Miles Conrad, MD
        • Contact:
    • Colorado
      • Aurora, Colorado, United States, 80045
        • Recruiting
        • University of Colorado, Denver
        • Principal Investigator:
          • Peter Hountras, MD
        • Contact:
        • Sub-Investigator:
          • Todd Bull, MD
    • Connecticut
      • New Haven, Connecticut, United States, 06520
        • Recruiting
        • Yale University
        • Principal Investigator:
          • Jeffrey Pollak, MD
        • Contact:
    • Georgia
      • Augusta, Georgia, United States, 30912
        • Recruiting
        • Augusta University
        • Contact:
        • Principal Investigator:
          • James Gossage, MD
    • Massachusetts
      • Boston, Massachusetts, United States, 02114
        • Recruiting
        • Massachusetts General Hospital
        • Principal Investigator:
          • Josanna Rodriguez-Lopez, MD
        • Sub-Investigator:
          • Allison Witkin, MD
        • Sub-Investigator:
          • Alexandra Wong, MD
        • Contact:
    • Minnesota
      • Rochester, Minnesota, United States, 55905
    • Missouri
      • Saint Louis, Missouri, United States, 63110
        • Recruiting
        • Washington University School of Medicine
        • Principal Investigator:
          • Murali Chakinala, MD
        • Contact:
        • Contact:
    • New York
      • New York, New York, United States, 10032
        • Recruiting
        • Columbia University
        • Contact:
        • Principal Investigator:
          • Charles Murphy, MD
    • North Carolina
      • Chapel Hill, North Carolina, United States, 27599
        • Recruiting
        • University of North Carolina, Chapel Hill
        • Contact:
        • Contact:
        • Principal Investigator:
          • Raj Kasthuri, MBBS
    • Ohio
      • Cleveland, Ohio, United States, 44106
        • Recruiting
        • The Cleveland Clinic
        • Sub-Investigator:
          • Keith McCrae, MD
        • Principal Investigator:
          • Joseph Parambil, MD
        • Sub-Investigator:
          • John Carl, MD
        • Contact:
    • Oregon
      • Portland, Oregon, United States, 97239
        • Recruiting
        • Oregon Health and Science University
        • Principal Investigator:
          • Mark Chesnutt, MD
        • Contact:
        • Sub-Investigator:
          • Claire Kaufman, MD
    • Pennsylvania
    • Texas
      • Dallas, Texas, United States, 75390
    • Utah
      • Salt Lake City, Utah, United States, 84132
        • Recruiting
        • University of Utah
        • Principal Investigator:
          • Kevin Whitehead, MD
        • Contact:
        • Contact:

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

Yes

Sampling Method

Non-Probability Sample

Study Population

All patients evaluated and diagnosed with HHT in the U.S. will be eligible to participate in the study.

Description

Inclusion Criteria:

  • Diagnosed with HHT based on the Curacao diagnostic criteria or genetic testing.
  • Able to provide informed consent or informed consent via a parent or legally authorized representative due to their age or medical condition.

Exclusion Criteria:

  • Unable to provide informed consent or informed consent via a parent or legally authorized representative.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
HHT patients
Those diagnosed with HHT based on the Curacao diagnostic criteria or genetic testing

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Comprehensive Baseline Data Collection using HHT Baseline Assessment Scale
Time Frame: 10 years
Utilizing the "HHT Baseline Assessment Scale," this measure focuses on recruiting a diverse cohort of HHT patients across North America. Comprehensive baseline clinical, demographic, and lifestyle data will be collected and entered into CHORUS. The data, aggregated as mean change from baseline using the scale, will serve as a foundational resource for future clinical translational studies, addressing the urgent need for natural history data in HHT.
10 years
Prospective Longitudinal Clinical Outcomes Assessment using HHT Clinical Outcomes Scale
Time Frame: 10 years
Utilizing the "HHT Clinical Outcomes Scale," this measure aims to prospectively and longitudinally assess the clinical outcomes of HHT patients. Determinants such as demographic factors, environmental influences, lifestyle choices, comorbidities, medications, HHT-genotype, and organ vascular malformations (VMs) will be measured. The data, aggregated as mean change from baseline using the scale, will enhance understanding and accelerate the development of new diagnostic and treatment options for HHT.
10 years

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Identify severe morbidity and mortality outcomes related to HHT using HHT Clinical Outcomes Scale
Time Frame: 10 years
Description: Utilizing the "HHT Clinical Outcomes Scale," this measure aims to prospectively and longitudinally assess severe complications in HHT. This measure focuses on measuring rates of severe complications in HHT. Determinants of these complications will be characterized, and the data will be aggregated as mean change from baseline using the index, providing valuable insights into the disease progression.
10 years
Epistaxis Characterization with Epistaxis Severity Scale
Time Frame: 10 years
Description: Utilizing the "Epistaxis Severity Scale," this measure aims to characterize epistaxis in adults with HHT, considering aspects such as frequency, duration, intensity, and variability. Outcome determinants related to epistaxis will be elucidated, and the data will be aggregated as mean change from baseline using the scale to inform comprehensive patient care.
10 years
Organ Vascular Malformation (VM) Development and Growth Assessment using Organ VMs Assessment Tool
Time Frame: 10 years
Utilizing the "Organ VMs Assessment Tool," this measure involves the prospective measurement of the development and growth of organ vascular malformations (VMs) in HHT patients over time. Outcome determinants related to these VMs will be investigated, and the data will be aggregated as mean change from baseline using the tool, contributing to a better understanding of disease progression.
10 years
Treatment Outcomes Assessment with HHT Treatment Outcomes Scale
Time Frame: 10 years
Utilizing the "HHT Treatment Outcomes Scale," this measure involves the prospective measurement of treatment outcomes for HHT and its clinical manifestations. Treatment outcome determinants will be characterized, and the data will be aggregated as mean change from baseline using the scale to guide effective management strategies for patients with HHT.
10 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Cure HHT

Collaborators

University of Colorado, Denver
Massachusetts General Hospital
Mayo Clinic
University of Pennsylvania
Washington University School of Medicine
University of California, Los Angeles
Yale University
University of Alabama at Birmingham
Columbia University
The Cleveland Clinic
Oregon Health and Science University
University of California, San Francisco
University of North Carolina, Chapel Hill
University of Texas
Augusta University
University of Utah
Health Resources and Services Administration (HRSA)

Investigators

  • Principal Investigator: Melissa A Dickey, MSN, Cure HHT

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

November 13, 2023

Primary Completion (Estimated)

November 1, 2033

Study Completion (Estimated)

November 1, 2033

Study Registration Dates

First Submitted

January 22, 2024

First Submitted That Met QC Criteria

February 6, 2024

First Posted (Actual)

February 14, 2024

Study Record Updates

Last Update Posted (Actual)

June 13, 2025

Last Update Submitted That Met QC Criteria

June 10, 2025

Last Verified

June 1, 2025

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • HHT001

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

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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