Comprehensive HHT Outcomes Registry of the United States (CHORUS)

GastroIntestinal Bleeding Clinical Trial

— CHORUS  

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT06259292
• Other study ID #: HHT001
• Status: Recruiting
• Start date: November 13, 2023
• Est. completion date: November 2033

Study information

• Verified date: June 2024
• Source: Cure HHT
• Contact: Melissa A Dickey, MSN
• Phone: 410-357-9932
• Email: melissa.dickey[@]curehht.org
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical 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. 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 10000
• Est. completion date: November 2033
• Est. primary completion date: November 2033
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: N/A and older

Eligibility

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.

Related Conditions & MeSH terms

• Arteriovenous Malformations
• Cerebral Arteriovenous Malformations
• Congenital Abnormalities
• Epistaxis
• GastroIntestinal Bleeding
• Gastrointestinal Hemorrhage
• Hemangioma
• Hereditary Hemorrhagic Telangiectasia
• Intracranial Arteriovenous Malformations
• Telangiectasia
• Telangiectasia, Hereditary Hemorrhagic
• Telangiectasis
• Vascular Malformation
• Vascular Malformations

Locations

Country	Name	City	State
United States	Augusta University	Augusta	Georgia
United States	University of Colorado, Denver	Aurora	Colorado
United States	Massachusetts General Hospital	Boston	Massachusetts
United States	University of North Carolina, Chapel Hill	Chapel Hill	North Carolina
United States	The Cleveland Clinic	Cleveland	Ohio
United States	University of Texas Southwestern	Dallas	Texas
United States	University of California, Los Angeles	Los Angeles	California
United States	Yale University	New Haven	Connecticut
United States	Columbia University	New York	New York
United States	University of Pennsylvania	Philadelphia	Pennsylvania
United States	Oregon Health and Science University	Portland	Oregon
United States	Mayo Clinic	Rochester	Minnesota
United States	Washington University School of Medicine	Saint Louis	Missouri
United States	University of Utah	Salt Lake City	Utah
United States	University of California, San Francisco	San Francisco	California

Sponsors (18)

Lead Sponsor

Collaborator

Cure HHT

Augusta University, Children's Hospital of Philadelphia, Columbia University, Health Resources and Services Administration (HRSA), Massachusetts General Hospital, Mayo Clinic, Oregon Health and Science University, The Cleveland Clinic, 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

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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.	10 years
Primary	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.	10 years
Secondary	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.	10 years
Secondary	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.	10 years
Secondary	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.	10 years
Secondary	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.	10 years