Cure HHT Working Groups
Clinicians, scientists, and patients working together on the questions in hereditary hemorrhagic telangiectasia (HHT) that no single institution can answer alone.
On this page
Six groups, one purpose
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. Their work feeds the CHORUS registry, the Cure HHT Biobank, and the International HHT Guidelines, and builds the data and cohorts investigators need to win federally funded research.
Working group
Women’s Health Initiative
The Cure HHT Women’s Health Initiative is a multidisciplinary research program focused on understanding how HHT affects women across the lifespan, with particular emphasis on menstruation and heavy menstrual bleeding, pregnancy and postpartum outcomes, and menopause. The initiative is integrating clinical, patient-reported, translational, and biospecimen research.
Current efforts include expanding women’s health data elements within the CHORUS clinical registry and HHT Connect patient registry; developing prospective research questions around menstrual bleeding, pregnancy, postpartum outcomes, and menopause; expanding the Cure HHT Biobank to collect reproductive tissues including placenta and uterine tissue; and identifying priority questions for future mechanistic and clinical studies.
The long-term goal is to generate the evidence necessary for HHT-specific clinical recommendations while creating preliminary data, cohorts, and biospecimen resources that investigators can leverage for federally funded research.
Leadership and expertise
The initiative brings together hematologists, OB/GYN specialists, vascular biologists, pulmonologists, pathologists, HHT clinicians, patient representatives, and Cure HHT research staff. Key participants include Bethany Samuelson-Bannow, MD, Chair; Raj Kasthuri, MBBS, Vice Chair; and Hanny Al-Samkari, MD, steering committee and GRMAB chair.
Working group
Liver and Heart / Hepatic Vascular Malformations Initiative
The Liver Working Group is focused on improving the understanding, screening, monitoring, and management of hepatic vascular malformations in HHT and their cardiovascular consequences, particularly high-output cardiac failure.
The group is reviewing existing evidence and clinical practice, identifying gaps in current HHT liver data, developing additional standardized data elements for CHORUS, and evaluating current approaches to liver VM screening within the HHT community. Cure HHT is also expanding access to rare liver biospecimens through its Biobank, including tissue obtained from HHT liver transplantation.
The longer-term objective is to establish standardized phenotyping and longitudinal data that can support studies of disease progression, biomarkers, mechanisms, and therapeutic intervention. The working group is already developing recommended additions to CHORUS and a community liver VM screening survey.
Leadership and committee
This group is led by Raj Kasthuri, MBBS and Panagis Galiatsatos, MD and includes cardiologists, hepatologists, hematologists, and Cure HHT staff.
Project
Comprehensive Bleeding Project
Bleeding is the dominant clinical burden of HHT, but existing measures largely evaluate individual manifestations (mostly epistaxis) rather than the patient’s total bleeding burden.
Cure HHT’s Comprehensive Bleeding Project is working toward a standardized approach that captures bleeding across multiple HHT manifestations, including epistaxis, gastrointestinal bleeding, menstrual bleeding, and other clinically significant bleeding, together with the supportive interventions required to manage blood loss, such as IV iron and red blood cell transfusions.
The goal is to develop and validate a comprehensive bleeding measure that can be incorporated into observational research, CHORUS, prospective clinical studies, and eventually therapeutic trials. A standardized outcome measure would also help investigators compare results across studies and provide infrastructure for future federally funded bleeding research.
Working group
PAH-HHT Initiative
Pulmonary arterial hypertension (PAH) is a rare but serious vascular complication associated particularly with ACVRL1-related HHT. The Cure HHT PAH-HHT initiative brings together HHT clinicians, pulmonary hypertension experts, basic and translational scientists, and patients to better define the natural history, clinical phenotype, biology, and treatment of this understudied population.
Current work includes development of standardized PAH-HHT data elements for CHORUS, biospecimen collection, and translational studies designed to better understand the relationship between BMP/TGF-β signaling, HHT, and pulmonary vascular disease.
The working group has already reviewed the CHORUS data dictionary and proposed additional PAH-HHT variables, and Cure HHT supported a dedicated PAH-HHT meeting and biospecimen collection effort in Dallas in 2026.
Project
HHT Diagnostic Criteria Project
The Diagnostic Criteria Project is examining whether the current clinical framework for diagnosing HHT adequately reflects contemporary understanding of the disease. The Curaçao Criteria (recurrent epistaxis, characteristic telangiectasias, visceral AVMs, and family history) remain foundational to HHT diagnosis, but important limitations have emerged, particularly in children, younger individuals, genetically confirmed patients with limited clinical manifestations, and individuals with atypical presentations.
The project has brought together clinical and genetic experts to evaluate current evidence and determine whether diagnostic criteria should be clarified, expanded, or modernized to incorporate advances in molecular genetics and HHT phenotyping. This work is particularly timely given emerging genomic prevalence studies and questions surrounding penetrance, variant interpretation, and the relationship between genetic and clinical definitions of HHT.
The long-term goal is an evidence-based diagnostic framework that improves earlier and more accurate identification of HHT and provides a foundation for future epidemiologic and clinical research: Curaçao 2.0, if you will.
Leadership
This work is led by Dr. Jim Gossage and Jamie McDonald, and we anticipate the last round of consensus to be completed the day before the scientific conference begins.
Project
International HHT Guidelines Project
Cure HHT coordinates the international, multidisciplinary process responsible for developing evidence-based clinical guidelines for HHT. The next update will reassess existing recommendations while also evaluating emerging areas where new guidance may be needed, including women’s health and menstrual bleeding, inflammation, and other areas where the HHT evidence base has expanded. Cure HHT is currently engaging the broader international clinical community to identify which existing guidelines require major or minor revision and to prioritize new topics.
The project ultimately brings together international HHT clinicians, scientists, methodologists, and patient representatives to review the evidence and develop consensus recommendations that can be translated into clinical practice. Beyond producing guidelines, the process identifies critical evidence gaps and therefore provides a research roadmap for the HHT field: areas where prospective cohorts, natural-history studies, mechanistic research, clinical trials, and federally funded studies are needed.
Leadership
Marie Faughnan, MD and Keith McCrae, MD, with Cure HHT leadership and an international multidisciplinary panel of HHT experts.