The Research Ripple Effect
For many people living with hereditary hemorrhagic telangiectasia (HHT), research can feel distant. It lives in conference halls, journal pages, grant proposals, and scientific jargon that does not always sound like daily life. Patients live in a different vocabulary: nosebleeds that interrupt dinner, iron infusions squeezed between work meetings, unexplained fatigue, the anxiety of screening for AVMs, the quiet calculations families make about whether a symptom is “normal for us” or something more dangerous.
But in HHT, the distance between lived experience and scientific progress is not as wide, or far off, as it seems. In fact, one of the most powerful truths in this field is that patient experience is not just adjacent to research. It is the raw material for it.
That is the research ripple effect.
It begins with something deceptively simple: data. A patient enrolls in a registry. A clinician records what is happening in real life, not just in the neat confines of a tightly controlled trial. Bleeding patterns, anemia, transfusions, organ involvement, symptom burden, complications, demographics, treatment history, quality of life. At first glance, those entries may look like rows in a spreadsheet. In reality, they are pattern recognition waiting to happen. They are the inner most ring in a ripple that can eventually reach something every HHT family wants: viable treatments, stronger standards of care, and ultimately drug development built on the actual needs of this community.
For HHT, this matters immensely because HHT has spent too much of its history being underestimated. It is often introduced to the world through its most visible symptom: nosebleeds. But HHT is not only a nosebleed disorder, and reducing it to that has serious consequences such as delayed diagnosis and narrowed clinical understanding. Worse yet, it can make severe bleeding, iron deficiency anemia, gastrointestinal involvement, pulmonary AVMs, brain AVMs, liver involvement, and other serious complications seem secondary when they are, in fact, central to the disease burden many patients carry. Recent publications citing Cure HHT registry data and biobank biological samples are helping to prove these points in ways the medical community and general population cannot ignore.
CHORUS, the Comprehensive HHT Outcomes Registry of the United States, was built by Cure HHT to capture the real-world clinical impact of HHT. This is not abstract. This is the infrastructure that allows the field to move from anecdote to evidence at national scale. In 2025, CHORUS data reached a major milestone when an abstract based on the first 600 enrolled patients was selected for oral presentation at the American Society of Hematology (ASH) annual meeting. That alone was meaningful. Oral presentations at ASH are not participation trophies. They signal that a dataset has become important enough for the hematology field to pay attention. Then, in March 2026, those findings moved into a published paper in Blood, one of the most respected journals in hematology. The initial report described findings from the first 600 participants and helped quantify the real burden of bleeding, anemia, thrombosis, and other serious complications in HHT.
That sequence matters because publication is not just prestige. It is translation.
A registry becomes a dataset. A dataset becomes an abstract. An abstract becomes a publication. A publication becomes something clinicians cite, researchers build on, and drug developers can no longer dismiss as too small, too vague, or too fragmented.
For HHT, registries do something particularly important: they reveal burden that has historically been dispersed across specialties. A hematologist may see anemia. An ENT may see epistaxis. An interventional radiologist may see AVMs. A hepatologist may see liver involvement. A pulmonologist may see hypoxemia or paradoxical embolic risk. A gynecologist may see heavy menstrual bleeding. Patients, unfortunately, get to see all of it at once. Registries help the field catch up to what patients already know: HHT is cumulative, layered, and systemic. When those data are collected in one place, the disease stops looking like a collection of isolated complications and starts looking like what it is — a full-body vascular disorder with serious consequences and clear unmet therapeutic need.
That shift is where drug development begins to change.
No company develops a therapy simply because a disease exists. The uncomfortable truth is that therapeutic development follows evidence. Developers need to understand disease burden, prevalence of complications, treatment gaps, clinical endpoints, subgroup variation, and the size of the unmet need. They need to know what is happening to patients now, how current care falls short, and where a therapy could realistically change outcomes. Registries help answer exactly those questions. They make HHT legible to the systems that decide where research dollars, clinical trial infrastructure, and pharmaceutical attention will go.
In other words, registries do not sit on the sidelines of drug development. They help create the case for it.
This is especially important in HHT because many patients have long been treated through adaptation rather than purpose-built therapy. Clinicians manage bleeding. Replace iron. Perform procedures. Embolize AVMs. Monitor organ systems. Prevent catastrophe where possible. All of that work matters. It saves lives. But management is not the same thing as having a robust pipeline of therapies developed with HHT itself in mind. If the field wants more targeted treatments, it needs the kind of evidence base that tells a compelling story to researchers, funders, regulators, and industry partners. CHORUS is helping build that story.
And CHORUS is not the only registry effort strengthening that foundation. HHT Connect started by Cure HHT, the first global patient registry for HHT, is designed to collect health information from as many patients as possible so researchers and doctors can discover patterns and clues that may help them better understand HHT and develop new treatments. That global scope matters. Rare diseases are, by definition, limited by numbers. HHT research gets stronger when patients are not treated like scattered outliers but as part of a connected and visible population. Every additional participant increases the power of the dataset, sharpens the patterns, and expands what the field can ask — and answer.
If HHT is going to move faster, the field needs more than awareness. It needs participation.
It needs patients and families willing to join registries, contribute samples, share their experiences, and help define the full reality of this disease. Because in rare disease research, visibility is not enough. Data drives action. Evidence drives investment. And investment is what helps move potential treatments from possibility to pipeline.
That is what makes patient engagement so powerful. It does not sit on the sidelines of discovery. It helps make discovery possible.
The burden of HHT is already being carried every day by patients, caregivers, and families. The next step is to make sure that burden continues to shape the research agenda, the clinical conversation, and the future of drug development. The ripple effect is real. Now it is up to all of us to keep it growing.
Valaree Machen
Senior Manager,
Marketing and Communications,
Cure HHT
This letter is featured within the 2026 Spring Newsletter, now available digitally. Find important resources, announcements, programs, stories from staff, community updates, and more. Download your copy today.