Clinical trial NCT04150822: CHORUS - Comprehensive HHT Outcomes Registry of the United States (Formerly OUR HHT Registry)
Official title: Hereditary Hemorrhagic Telangiectasia (HHT) Research Outcomes Registry
Study type: OBSERVATIONAL
Overall status: ACTIVE_NOT_RECRUITING
Conditions: Hereditary Hemorrhagic Telangiectasia
HHT
Arteriovenous Malformation of Brain
Lead sponsor: Unity Health Toronto
Sponsor class: OTHER
Collaborators: name: Cure HHT
name: Dartmouth College
First posted: 2019-11-05
Enrollment: 296
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Subjects with Hereditary Hemorrhagic Telangiectasia (HHT), living in North America

Brief summary: The goal of this study is to better understand HHT, the symptoms and complications it causes ("outcomes") and how the disease impacts people's lives. The investigators are aiming to recruit and gather information together in the Registry from 1,000 HHT patients from four HHT Centres of Excellence in North America. The Investigators will collect long-term information about the people in the Registry, allowing the investigators to understand how the disease changes over time, and what factors can influence those changes. Ultimately, this should help improve treatments for the disease.

Detailed description: Background and Rationale HHT has an estimated prevalence of 1 in 5000, affecting children and adults, in multiple organs. The disease is characterized by the presence of vascular malformations (VMs), including arteriovenous malformations (AVMs) of the lung, liver, brain, spinal cord and smaller mucosal lesions (telangiectasia) of the nose, mouth and GI tract. These lesions lead to acute and chronic bleeding, stroke, heart failure and death. Treatments are currently mostly limited to managing complications, while approximately 90% of adults have ongoing symptoms, despite best surgical and medical therapies. With recent drug development related to angiogenesis, there is hope for effective novel therapies. Investigators, experts, the International HHT Guidelines, Pharma representatives, the CDC and HHT patient advocates (curehht.org) all agree that there is an urgent need for natural history data in this disease, with characterization of clinical outcomes, to allow patients to benefit from the explosion of drug development in the field.

As of August 27, 2023, the OUR HHT Registry has transitioned to the CHORUS platform (Studytrax) for ongoing data collection. Only select CHORUS-funded sites are currently enrolling. The Toronto site has completed enrollment but remains active with REB approval.

Eligibility criteria: Inclusion Criteria:

* Participants diagnosed with HHT by the Curacao criteria (either 3+ clinical diagnostic criteria or genetic diagnosis).
* Capable of giving informed consent in person or via a substitute decision maker
* \>18 years

Exclusion Criteria:

* Participants unable to give informed consent either in person or with a substitute decision maker

Primary outcomes:
measure: Prospective and longitudinal characterization of major outcomes of HHT in a cohort of HHT patients, from Centers of Excellence in North America.
timeFrame: 10 Years
measure: The longitudinal characterization of major outcomes of HHT in the North American cohort
timeFrame: 10 Years
Secondary outcomes:
measure: Characterizing the determinants of HHT by prospectively and longitudinally measuring the rates of clinical outcome of HHT
timeFrame: 10 Years
measure: Epistaxis which affects 90% of adults with HHT, will be characterized by measuring the rates of clinical outcome.
timeFrame: 10 Years
measure: The prospective development of organ VMs in HHT patients
timeFrame: 10 Years
measure: The rates of venous thromboembolism (VTE) in HHT patients
timeFrame: 10 Years
measure: A DNA repository of HHT subjects will be created as a resource for future genetic, pharmacogenetics and targeted therapy studies.
timeFrame: 10 Years
Other outcomes:
measure: Participant entered data
timeFrame: 10 Years
Locations:
city: Toronto
country: Canada
facility: St. Michael's Hospital
state: Ontario
Study officials:
affiliation: Unity Health Toronto
name: Marie E Faughnan, MD
role: PRINCIPAL_INVESTIGATOR
References: