Research & Therapeutics
Hereditary hemorrhagic telangiectasia (HHT) has no cure yet. The science that will produce one is underway now, and Cure HHT funds, connects, and accelerates it.
Where the science stands
The genetic basis of HHT is largely understood. Pathogenic variants in ENG and ACVRL1 account for roughly 90 percent of cases, with SMAD4 responsible for a further three to five percent. All of these genes sit in the same signaling pathway, which is why a condition that presents so differently from person to person has a single underlying mechanism.
That shared mechanism is the opening. Therapies that act on abnormal blood vessel formation, rather than on individual lesions after they bleed, are now in clinical use and in trials. The work ahead is to make those therapies safer, more targeted, and available to everyone who needs them, and to find the treatment that stops malformations from forming at all.
~90%
of cases explained by ENG or ACVRL1 variants
55+
Centers of Excellence contributing clinical data
2+ million
people worldwide who stand to benefit
10–15%
of families still have no variant identified, a research priority
How Cure HHT moves research forward
A rare disease does not get a research field by default. It gets one when someone builds the infrastructure that makes studies possible.
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Direct research funding
Grants that support early-stage work too preliminary for federal funding, which is where most discoveries in a rare disease begin.
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Registry and biobank
Patient-contributed data and biological samples that let researchers study natural history and test hypotheses without starting from nothing.
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Centers of Excellence network
More than 55 accredited centers that together can enroll a trial in a condition no single institution sees enough of.
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Convening the field
The scientific conference and working groups that keep clinicians, researchers, and industry aligned on what matters most.
What comes next
Research priorities
These are the questions the HHT research community has identified as most consequential.
- Stopping malformations before they form. Current treatment addresses lesions once they exist. Prevention would change the condition entirely.
- Better therapies for severe epistaxis. Nosebleeds remain the symptom that most affects daily life, and the treatment options still fall short for many people.
- Predicting who develops what. Two people with the same variant can have very different disease. Understanding why would allow screening and treatment to be targeted.
- Finding the missing genes. For 10 to 15 percent of families who clearly have HHT, no causative variant has been identified.
- Closing the diagnostic gap. Research into how HHT is missed, and what changes clinician recognition, is as consequential as laboratory science.