Research Initiatives
Research into a rare disease fails for structural reasons more often than scientific ones. These are the programs Cure HHT built to remove those obstacles for hereditary hemorrhagic telangiectasia (HHT).
Why these exist
The problem these programs solve
A researcher who wants to study HHT faces the same three obstacles everywhere. There are not enough patients at any one institution to power a study. There is little preliminary data, so federal grants are difficult to win. And the samples needed to test a hypothesis do not exist in any accessible collection.
Each initiative below removes one of those obstacles. Together they are the reason HHT has an active research field at all.
Know these by name
Three programs you can take part in or read today
Two registries and a plan. The registries collect different things in different ways, and it is worth knowing which is which before you sign up for either.
Registry · United States
CHORUS
The Comprehensive HHT Outcomes Registry of the United States. An observational registry that follows people with HHT over years, so researchers can see how the disease changes and what influences those changes.
Enrollment happens through an HHT Center of Excellence that is actively recruiting, so you need to be receiving care at one. No extra travel is required. The enrollment visit or call takes about two hours, and about one hour each year after that.
Registry · Worldwide
HHT Connect
The first global patient registry for HHT. You answer survey questions online, in your own time, from wherever you are. Adults with HHT, caregivers, and parents or guardians of children with HHT can all take part.
Participation is free and voluntary, and what you enter is held on an encrypted server under measures designed to protect your privacy. The aim is to capture the full global range of this community rather than only the parts of it near a specialist center.
The plan · Next 3 to 5 years
Research Roadmap
What Cure HHT is prioritizing, and why, across three areas: research into what causes HHT, treatments that manage symptoms and restore function, and awareness that gets people diagnosed sooner.
The priorities are not a staff opinion. They came out of a survey of 1,204 patients, 96 clinicians, and 42 scientists, supported by a grant from the Chan Zuckerberg Initiative Rare As One Project, and the Cure HHT Research Network turned those answers into the strategy.
The rest of the infrastructure
What else is in place
Biobank and tissue donation
Blood, tissue, and derived samples made available to qualified investigators. A donated sample can support studies for years after it is given.
Research grants
Seed funding for work at the stage where no one else will pay for it, aimed at generating the preliminary data that unlocks larger awards.
Centers of Excellence network
More than 55 accredited centers that share protocols and can enroll a multi-site trial in a condition no single hospital sees enough of.
Outcome measures
Agreed ways to measure whether a treatment helped, including measures of epistaxis severity and quality of life, so that studies can be compared to one another.
Cure HHT Working Groups
Each working group below takes on a gap in the HHT evidence base, from how the disease affects women to how it should be diagnosed.
Patient voice in study design
Structured input from people living with HHT on what a study should measure, so that trials track the outcomes patients actually care about. We consider patients in the design of every project we have.
What participation makes possible
None of this infrastructure works without people contributing to it. A registry entry, a blood sample, or an hour answering questions about symptoms is the raw material every study depends on.
Contributions are handled under research ethics oversight, with identifying information protected and access granted only to qualified investigators under approved protocols. You can ask what a study involves before agreeing to anything, and you can withdraw.
Registries
Natural history data that lets a trial detect a real effect
Biobank
Samples that support studies for years after donation
Network
55+ centers that can enroll a trial together
Grants
Early funding that unlocks much larger federal awards