Comprehensive HHT Outcomes Registry of the United States (CHORUS)
- Conditions
- GastroIntestinal BleedingTelangiectasiaCerebral Arteriovenous MalformationsVascular MalformationEpistaxisHereditary Hemorrhagic TelangiectasiaArteriovenous Malformations
- Registration Number
- NCT06259292
- Lead Sponsor
- Cure HHT
- Brief 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.
- 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.
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 10000
- 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.
- Unable to provide informed consent or informed consent via a parent or legally authorized representative.
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Prospective Longitudinal Clinical Outcomes Assessment using HHT Clinical Outcomes Scale 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.
Comprehensive Baseline Data Collection using HHT Baseline Assessment Scale 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.
- Secondary Outcome Measures
Name Time Method Epistaxis Characterization with Epistaxis Severity Scale 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.
Organ Vascular Malformation (VM) Development and Growth Assessment using Organ VMs Assessment Tool 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.
Treatment Outcomes Assessment with HHT Treatment Outcomes Scale 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.
Identify severe morbidity and mortality outcomes related to HHT using HHT Clinical Outcomes Scale 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.
Trial Locations
- Locations (16)
University of Alabama at Birmingham
🇺🇸Birmingham, Alabama, United States
University of California, Los Angeles
🇺🇸Los Angeles, California, United States
University of California, San Francisco
🇺🇸San Francisco, California, United States
University of Colorado, Denver
🇺🇸Aurora, Colorado, United States
Yale University
🇺🇸New Haven, Connecticut, United States
Augusta University
🇺🇸Augusta, Georgia, United States
Massachusetts General Hospital
🇺🇸Boston, Massachusetts, United States
Mayo Clinic
🇺🇸Rochester, Minnesota, United States
Washington University School of Medicine
🇺🇸Saint Louis, Missouri, United States
Columbia University
🇺🇸New York, New York, United States
University of North Carolina, Chapel Hill
🇺🇸Chapel Hill, North Carolina, United States
The Cleveland Clinic
🇺🇸Cleveland, Ohio, United States
Oregon Health and Science University
🇺🇸Portland, Oregon, United States
University of Pennsylvania
🇺🇸Philadelphia, Pennsylvania, United States
University of Texas Southwestern
🇺🇸Dallas, Texas, United States
University of Utah
🇺🇸Salt Lake City, Utah, United States