Hereditary Hemorrhagic Telangiectasia (HHT) Research Outcomes Registry

Hereditary Hemorrhagic Telangiectasia Clinical Trial

— HHT  

Official title:

Hereditary Hemorrhagic Telangiectasia (HHT) Research Outcomes Registry

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT04150822
• Other study ID #: OURHHT
• Status: Active, not recruiting
• Start date: November 1, 2018
• Est. completion date: December 2028

Study information

• Verified date: March 2024
• Source: Unity Health Toronto
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Active, not recruiting
• Enrollment: 287
• Est. completion date: December 2028
• Est. primary completion date: December 2028
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Arteriovenous Malformation of Brain
• Arteriovenous Malformations
• Hereditary Hemorrhagic Telangiectasia
• HHT
• Intracranial Arteriovenous Malformations
• Telangiectasia, Hereditary Hemorrhagic
• Telangiectasis

Intervention

Other:
• Registry and Saliva sample
Non-interventional registry with saliva sample collected for DNA analysis

Locations

Country	Name	City	State
Canada	St. Michael's Hospital	Toronto	Ontario

Sponsors (3)

Lead Sponsor	Collaborator
Unity Health Toronto	Cure HHT, Dartmouth College

Country where clinical trial is conducted

Canada, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Other	Participant entered data	Data collection from participant relating symptoms and knowledge of HHT	10 Years
Primary	Prospective and longitudinal characterization of major outcomes of HHT in a cohort of HHT patients, from Centers of Excellence in North America.	Comprehensive baseline clinical, demographic and lifestyle data will be collected and entered into the recruitment-ready newly developed OUR HHT Registry.	10 Years
Primary	The longitudinal characterization of major outcomes of HHT in the North American cohort	Annual outcome data will be collected and entered into the recruitment-ready newly developed OUR HHT Registry.	10 Years
Secondary	Characterizing the determinants of HHT by prospectively and longitudinally measuring the rates of clinical outcome of HHT	The rates of severe complications of HHT will be measured and their determinants characterized.	10 Years
Secondary	Epistaxis which affects 90% of adults with HHT, will be characterized by measuring the rates of clinical outcome.	The characteristics and determinants of epistaxis will be studied.	10 Years
Secondary	The prospective development of organ VMs in HHT patients	Development of new VMs/growth of VMs and its determinants will be measured.	10 Years
Secondary	The rates of venous thromboembolism (VTE) in HHT patients	The rates and determinants of venous thromboembolism in HHT patients will be measured prospectively.	10 Years
Secondary	A DNA repository of HHT subjects will be created as a resource for future genetic, pharmacogenetics and targeted therapy studies.	Saliva samples of all recruited subjects will collected to create a DNA repository	10 Years