Comprehensive HHT Outcomes Registry of the United States (CHORUS)

NCT ID: NCT06259292

Last Updated: 2025-06-13

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

10000 participants

Study Classification

OBSERVATIONAL

Study Start Date

2023-11-13

Study Completion Date

2033-11-30

Brief Summary

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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.

Detailed Description

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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.

Conditions

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Hereditary Hemorrhagic Telangiectasia Arteriovenous Malformations Telangiectasia Epistaxis GastroIntestinal Bleeding Cerebral Arteriovenous Malformations Vascular Malformation

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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HHT patients

Those diagnosed with HHT based on the Curacao diagnostic criteria or genetic testing

No interventions assigned to this group

Eligibility Criteria

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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.
Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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Augusta University

OTHER

Sponsor Role collaborator

The Cleveland Clinic

OTHER

Sponsor Role collaborator

Mayo Clinic

OTHER

Sponsor Role collaborator

Massachusetts General Hospital

OTHER

Sponsor Role collaborator

Columbia University

OTHER

Sponsor Role collaborator

Oregon Health and Science University

OTHER

Sponsor Role collaborator

University of California, Los Angeles

OTHER

Sponsor Role collaborator

University of California, San Francisco

OTHER

Sponsor Role collaborator

University of Colorado, Denver

OTHER

Sponsor Role collaborator

University of North Carolina, Chapel Hill

OTHER

Sponsor Role collaborator

University of Pennsylvania

OTHER

Sponsor Role collaborator

University of Texas

OTHER

Sponsor Role collaborator

University of Utah

OTHER

Sponsor Role collaborator

Washington University School of Medicine

OTHER

Sponsor Role collaborator

Yale University

OTHER

Sponsor Role collaborator

Health Resources and Services Administration (HRSA)

FED

Sponsor Role collaborator

University of Alabama at Birmingham

OTHER

Sponsor Role collaborator

Cure HHT

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Melissa A Dickey, MSN

Role: PRINCIPAL_INVESTIGATOR

Cure HHT

Locations

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University of Alabama at Birmingham

Birmingham, Alabama, United States

Site Status RECRUITING

University of California, Los Angeles

Los Angeles, California, United States

Site Status RECRUITING

University of California, San Francisco

San Francisco, California, United States

Site Status RECRUITING

University of Colorado, Denver

Aurora, Colorado, United States

Site Status RECRUITING

Yale University

New Haven, Connecticut, United States

Site Status RECRUITING

Augusta University

Augusta, Georgia, United States

Site Status RECRUITING

Massachusetts General Hospital

Boston, Massachusetts, United States

Site Status RECRUITING

Mayo Clinic

Rochester, Minnesota, United States

Site Status RECRUITING

Washington University School of Medicine

St Louis, Missouri, United States

Site Status RECRUITING

Columbia University

New York, New York, United States

Site Status RECRUITING

University of North Carolina, Chapel Hill

Chapel Hill, North Carolina, United States

Site Status RECRUITING

The Cleveland Clinic

Cleveland, Ohio, United States

Site Status RECRUITING

Oregon Health and Science University

Portland, Oregon, United States

Site Status RECRUITING

University of Pennsylvania

Philadelphia, Pennsylvania, United States

Site Status RECRUITING

University of Texas Southwestern

Dallas, Texas, United States

Site Status RECRUITING

University of Utah

Salt Lake City, Utah, United States

Site Status RECRUITING

Countries

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United States

Central Contacts

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Melissa A Dickey, MSN

Role: CONTACT

410-357-9932 ext. 109

Nolie Krock, MSc

Role: CONTACT

410-357-9932

Facility Contacts

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Tyler Prisoc

Role: primary

205-934-9146

Josie Harris, BSN, RN

Role: backup

205-996-9647

Niloofar (Lily) Sheshebor

Role: primary

310-562-9752

Victoria Rueda

Role: backup

310-562-9694

Bridget Kilbride

Role: primary

415-514-6221

Johan Allingmon

Role: primary

303-724-6052

Katharine Henderson

Role: primary

203-737-1427

Melissa James, RN

Role: primary

706-721-5599

Mamary Kone, MD, MPH

Role: primary

617-724-0536

Greg Schwichtenberg

Role: primary

507-255-1245

Sue Ann Donlinger

Role: backup

507-284-9259

Melissa Beasley, AA

Role: primary

314-273-5922

Kristine Kempf

Role: backup

314-273-8131

Kelsey Weddig, RN, BSN

Role: primary

212-305-7470

Karen Smith, RN

Role: primary

916-966-2790

Kristi Kirkland

Role: backup

919-966-2790

JoAnne Baran, RN

Role: primary

216-645-1372

Lori Russell, RN

Role: primary

503-494-7226

Ala Streater, BS

Role: primary

215-662-3622

Isaac Elysee, MS

Role: backup

215-614-0833

Sabrina Akhter Mim

Role: primary

214-645-6092

Anay Cruz

Role: backup

214-645-1372

Cassidy Sion, RN, BSN

Role: primary

801-581-8188

Maryvic Ruiz

Role: backup

Other Identifiers

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HHT001

Identifier Type: -

Identifier Source: org_study_id

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