Hereditary Hemorrhagic TelangiectasiaCHORUSNCT06259292
Comprehensive HHT Outcomes Registry of the United States (CHORUS)
An observational study of Hereditary Hemorrhagic Telangiectasia and Arteriovenous Malformations, run by Cure HHT at 16 sites in United States.
Trial summary
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. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Hereditary Hemorrhagic Telangiectasia, Arteriovenous Malformations, Telangiectasia
- How many people
- 10,000 participants
- Where
- 16 sitesUnited States
- Study dates
- 13 Nov 2023to Nov 2033
- How long will I take part?
- 10 Years
- Phase
- Observational
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: All patients evaluated and diagnosed with HHT in the U.S. will be eligible to participate in the study.
Who may be able to join
- 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.
Who cannot join
- Unable to provide informed consent or informed consent via a parent or legally authorized representative.
Trial locations and contacts
16 sites in 1 country. Contact the study team or a site near you to ask about taking part.
16 sites in 1 country
United States16 sites, 16 recruiting
- Recruiting
Augusta University
Augusta, Georgia, 30912
Melissa James, RN, 706-721-5599, mejames@augusta.edu
James Gossage, MD
- Recruiting
University of Colorado, Denver
Aurora, Colorado, 80045
Johan Allingmon, 303-724-6052, johan.allingmon@cuanschutz.edu
Peter Hountras, MD
- Recruiting
University of Alabama at Birmingham
Birmingham, Alabama, 35294
Josie Harris, BSN, RN, 205-996-9647, jcrespo@uabmc.edu
Jesse Jones, MD
- Recruiting
Massachusetts General Hospital
Boston, Massachusetts, 02114
Mamary Kone, MD, MPH, 617-724-0536, mkone@mgh.harvard.edu
Jack Bamford, 617-724-0536, jbamford@mgh.harvard.edu
- Recruiting
University of North Carolina, Chapel Hill
Chapel Hill, North Carolina, 27599
Karen Smith, RN, 916-966-2790, karens@med.unc.edu
Raj Kasthuri, MBBS
- Recruiting
The Cleveland Clinic
Cleveland, Ohio, 44106
JoAnne Baran, RN, 216-645-1372, baranj2@ccf.org
Ursula Kuhn, (503) 494-2932, kuhnu@ohsu.edu
- Recruiting
University of Texas Southwestern
Dallas, Texas, 75390
Sabrina Akhter Mim, 214-645-6092, Sabrina.AkhterMim@UTSouthwestern.edu
Anay Cruz, 214-645-1372, Anay.Cruz@UTSouthwestern.edu
- Recruiting
University of California, Los Angeles
Los Angeles, California, 90095
Niloofar (Lily) Sheshebor, 310-562-9752, nsheshebor@mednet.ucla.edu
Victoria Rueda, 310-562-9694, vrueda@mednet.ucla.edu
- Recruiting
Yale University
New Haven, Connecticut, 06520
Katharine Henderson, 203-737-1427, katharine.henderson@yale.edu
Jeffrey Pollak, MD
- Recruiting
Columbia University
New York, New York, 10032
Kelsey Weddig, RN, BSN, 212-305-7470, kw3149@cumc.columbia.edu
Charles Murphy, MD
- Recruiting
University of Pennsylvania
Philadelphia, Pennsylvania, 19104
Isaac Elysee, MS, 215-614-0833, isaac.elysee@pennmedicine.upenn.edu
Theodore Drivas, MD
- Recruiting
Oregon Health and Science University
Portland, Oregon, 97239
Lori Russell, RN, 503-494-7226, watsonlo@ohsu.edu
Mark Chesnutt, MD
- Recruiting
Mayo Clinic
Rochester, Minnesota, 55905
Greg Schwichtenberg, 507-255-1245, Schwichtenberg.Greg@mayo.edu
Sue Ann Donlinger, 507-284-9259, Donlinger.SueAnn@mayo.edu
- Recruiting
University of Utah
Salt Lake City, Utah, 84132
Kehaunani Tai, 801-581-8188 ext. Option 2, nani.tai@hsc.utah.edu
Kevin Whitehead, MD
- Recruiting
University of California, San Francisco
San Francisco, California, 94107
Bridget Kilbride, 415-514-6221, bridget.kilbride@ucsf.edu
Steven Hetts, MD
- Recruiting
Washington University School of Medicine
St Louis, Missouri, 63110
Melissa Beasley, AA, 314-273-5922, beasleym@wustl.edu
Kristine Kempf, 314-273-8131, kempf@wustl.edu
About this study
Official title: 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.
Read more
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.
Read the 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.
- Conditions
- Hereditary Hemorrhagic Telangiectasia, Arteriovenous Malformations, Telangiectasia, Epistaxis, GastroIntestinal Bleeding, Cerebral Arteriovenous Malformations
- Medical subject headings
- Telangiectasia, Hereditary Hemorrhagic, Arteriovenous Malformations, Telangiectasis, Epistaxis, Gastrointestinal Hemorrhage, Intracranial Arteriovenous Malformations, Vascular Malformations
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| HHT patients | Those diagnosed with HHT based on the Curacao diagnostic criteria or genetic testing |
What is being measured
The primary outcome is the main question the study is designed to answer.
Comprehensive Baseline Data Collection using HHT Baseline Assessment Scale
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.
Measured: 10 years
Prospective Longitudinal Clinical Outcomes Assessment using HHT Clinical Outcomes Scale
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.
Measured: 10 years
Secondary outcomes (4)
Identify severe morbidity and mortality outcomes related to HHT using HHT Clinical Outcomes Scale
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.
Measured: 10 years
Epistaxis Characterization with Epistaxis Severity Scale
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.
Measured: 10 years
Organ Vascular Malformation (VM) Development and Growth Assessment using Organ VMs Assessment Tool
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.
Measured: 10 years
Treatment Outcomes Assessment with HHT Treatment Outcomes Scale
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.
Measured: 10 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Feb 2024
- Study start13 Nov 2023
- Primary completionNov 2033 (estimated)
- Study completionNov 2033 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Hereditary Hemorrhagic TelangiectasiaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 10,000 participants (estimated)
- Target duration
- 10 Years
Sponsor and investigators
- Lead sponsor
- Cure HHT
- Sponsor type
- University, hospital or other
- Collaborators
- Augusta University, The Cleveland Clinic, Mayo Clinic, Massachusetts General Hospital, Columbia University, Oregon Health and Science University, University of California, Los Angeles, University of California, San Francisco, University of Colorado, Denver, University of North Carolina, Chapel Hill, University of Pennsylvania, University of Texas, University of Utah, Washington University School of Medicine, Yale University, Health Resources and Services Administration (HRSA), University of Alabama at Birmingham
- Responsible party
- Sponsor
- Investigators
- Nolie Krock, MSc, Principal investigator, Cure HHTCassi Friday, PhD, Principal investigator, Cure HHT
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06259292
- Sponsor's protocol ID
- HHT001
- Acronym
- CHORUS
- Status last verified
- Jul 2026
- First submitted
- 22 Jan 2024
- Last updated
- 17 Jul 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Publications
Al-Samkari H, Friday C, Kasthuri RS, Gossage JR, Murphy CG, Hountras P, Smith KL, Kirkland K, Iyer V, Prasad V, Ahluwalia V, Rodriguez-Lopez J, Witkin AS, Conrad M, Hetts S, Ohliger M, Chakinala M, Sisk BA, Beasley MA, Kirkpatrick P, Lindquist J, Battaile JT, Lu A, Parambil J, McCrae K, Sheynzon V, Whitehead K, Sion C, McWilliams J, Cusumano LR, Trerotola SO, Drivas TG, Chesnutt M, Kaufman C, Dickey M, Boyce D, Krock N, Cottrill C, Competiello T, Levy H, Clancy M, Henderson K, Pollak JS. Clinical spectrum of hereditary hemorrhagic telangiectasia: data from the Comprehensive HHT Outcomes Registry of the US (CHORUS). Blood. 2026 Jul 23;148(4):417-432. doi: 10.1182/blood.2026033112.
PubMed 41843464