Clinical trial NCT06259292: Comprehensive HHT Outcomes Registry of the United States (CHORUS)
Official title: CHORUS: Comprehensive HHT (Hereditary Hemorrhagic Telangiectasia) Outcomes Registry of the United States
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Hereditary Hemorrhagic Telangiectasia
Arteriovenous Malformations
Telangiectasia
Epistaxis
GastroIntestinal Bleeding
Cerebral Arteriovenous Malformations
Vascular Malformation
Lead sponsor: Cure HHT
Sponsor class: OTHER
Collaborators: name: Augusta University
name: The Cleveland Clinic
name: Mayo Clinic
name: Massachusetts General Hospital
name: Columbia University
name: Oregon Health and Science University
name: University of California, Los Angeles
name: University of California, San Francisco
name: University of Colorado, Denver
name: University of North Carolina, Chapel Hill
name: University of Pennsylvania
name: University of Texas
name: University of Utah
name: Washington University School of Medicine
name: Yale University
name: Health Resources and Services Administration (HRSA)
name: University of Alabama at Birmingham
First posted: 2024-02-14
Enrollment: 10000
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: COHORT
Time perspective: PROSPECTIVE
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.

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.

Eligibility criteria: 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.

Primary outcomes:
measure: Comprehensive Baseline Data Collection using HHT Baseline Assessment Scale
timeFrame: 10 years
measure: Prospective Longitudinal Clinical Outcomes Assessment using HHT Clinical Outcomes Scale
timeFrame: 10 years
Secondary outcomes:
measure: Identify severe morbidity and mortality outcomes related to HHT using HHT Clinical Outcomes Scale
timeFrame: 10 years
measure: Epistaxis Characterization with Epistaxis Severity Scale
timeFrame: 10 years
measure: Organ Vascular Malformation (VM) Development and Growth Assessment using Organ VMs Assessment Tool
timeFrame: 10 years
measure: Treatment Outcomes Assessment with HHT Treatment Outcomes Scale
timeFrame: 10 years
Other outcomes:
Locations:
city: Birmingham
country: United States
facility: University of Alabama at Birmingham
state: Alabama
city: Los Angeles
country: United States
facility: University of California, Los Angeles
state: California
city: San Francisco
country: United States
facility: University of California, San Francisco
state: California
city: Aurora
country: United States
facility: University of Colorado, Denver
state: Colorado
city: New Haven
country: United States
facility: Yale University
state: Connecticut
city: Augusta
country: United States
facility: Augusta University
state: Georgia
city: Boston
country: United States
facility: Massachusetts General Hospital
state: Massachusetts
city: Rochester
country: United States
facility: Mayo Clinic
state: Minnesota
city: Saint Louis
country: United States
facility: Washington University School of Medicine
state: Missouri
city: New York
country: United States
facility: Columbia University
state: New York
city: Chapel Hill
country: United States
facility: University of North Carolina, Chapel Hill
state: North Carolina
city: Cleveland
country: United States
facility: The Cleveland Clinic
state: Ohio
city: Portland
country: United States
facility: Oregon Health and Science University
state: Oregon
city: Philadelphia
country: United States
facility: University of Pennsylvania
state: Pennsylvania
city: Dallas
country: United States
facility: University of Texas Southwestern
state: Texas
city: Salt Lake City
country: United States
facility: University of Utah
state: Utah
Study officials:
affiliation: Cure HHT
name: Melissa A Dickey, MSN
role: PRINCIPAL_INVESTIGATOR
References: