Meeting HHT Europe 2026

Summary

March 13 and 14 at the Mercure Leonardo Da Vinci Hotel in Fiumicino.

The main objective of this meeting is to provide an opportunity for fellowships and to provide an opportunity for members of patient organizations to network and share experiences. In addition to this, it gives us the opportunity to update knowledge on current topics through presentations and interaction with doctors and guest scientists. On this occasion we had the presence of delegates from HHT Italy, HHT Onilde Carini, HHT Spain, HHT Germany, HHT Ireland, HHT Norway, HHT Belgium, HHT Czech Republic, HHT Sweden, HHT Switzerland, HHT Netherlands, HHT United Kingdom, HHT France and HHT Finland.

The event was structured in several sections:

PRE-MEETING WORKSHOP

The first section was led by Claudia Crocione, HHT Italia and Manager of HHT Europe and Dara Woods, president of HHT Ireland and secretary of HHT Europe. This section provides new organizations with strategic guidance for strengthening patient organizations, focusing on community development and sustainable financial management. A strong community is built on trust, transparency, and constant interaction through up-to-date databases and communication channels. In the economic sphere, it is recommended to diversify sources of income between public and private funds, suggesting tactics to reduce operating expenses and optimize the budget. The main idea is that long-term success depends on effective member retention, achieved through value contributions and clear accountability. Finally, practical examples and digital tools were presented to maximize the social impact of organizations.

CONTEXT AND PROSPECTIVE ANALYSIS

The second section gave context, history and mission to HHT Europe. Anne Goustille, HHT France and Vice President of HHT Eu, and Bienvenido Muñoz, President of HHT Eu, told us about the trajectory and objectives of the HHT Europe Federation since its inception in 2012. Currently the entity has grown to group 18 national organizations. HHT Europe’s main objective to improve the quality of life of HHT patients is to foster collaboration in scientific research and the creation of networks of specialized centers. The importance of advocacy, training of delegates and cooperation with the pharmaceutical industry to accelerate the development of new treatments is underlined. In addition, HHT Europe sets strategic goals for the future, such as the expansion of patient registries and the organization of a European conference..

Subsequently, Petronella McLoughlin gave us a detailed presentation on the extensive process of drug development, a complex journey that usually exceeds twelve years of research and medical validation. The process begins with the identification and validation of molecular targets, followed by rigorous preclinical stages in laboratories and live models to ensure initial safety. Subsequently, the three phases of clinical trials are described, which evaluate from basic toxicity to definitive efficacy in thousands of patients under strict regulations. Subsequently, the regulatory authorities carry out a thorough review of all the scientific data before allowing the marketing and mass distribution of the drug. Finally, the process includes vital post-market monitoring to track rare side effects and ensure continued quality in the real world. Petronella highlights the reality that despite scientific effort, about 98% of potential therapies fail, evidencing the high risks and costs of this industry.

Next, Dr. Mª Luisa Botella did not present the advances in clinical trials and pharmacological strategies to treat HHT, mainly in those with an advanced level of development in 2026. Dr. Botella explained that there are three main therapeutic pathways: antifibrinolytic to stabilize clots, genetic stimulation of the ENG and ALK1 genes, and antiangiogenic to slow down the growth of abnormal blood vessels. Research on specific drugs such as Pazopanib, Bevacizumab and Engasertib stands out, analyzing their ability to reduce nosebleeds and anemia. She also pointed to the use of orphan drugs and new gene silencing therapies using RNAi developed by Alnylam. Finally, the work of academic and medical institutions in the search for treatments that improve the quality of life of patients was highlighted.

One of the most eagerly awaited presentations was given by Dr. Azmi Nabulsi (President and CEO) and Dr. Pierre Saint-Mezard (Chief Scientific Officer and Co-Founder) of Vaderis Therapeutics. We had the opportunity to hear first-hand about clinical advances on Engasertib, a new drug designed to treat HHT. The doctors explained that the drug’s mechanism of action works by partially inhibiting the AKT protein, significantly reducing the frequency and duration of nosebleeds in patients. Clinical studies determined that a daily dose of 30 mg or 40 mg is the optimal range for effective and long-lasting results. They highlighted in their presentation that although side effects such as rashes and increases in glucose were reported, these are described as mild and controllable, demonstrating that Engasertib is a safe medication. In terms of improving the quality of life of patients who participated in the trial, 61% of patients who received the 40 mg dose reported feeling “much better” after 12 weeks of treatment. In addition, a visible regression of cutaneous telangiectasias was observed in this same period. This research positions Engasertib as a promising therapeutic option for HHT in the short term.

Finally, this session closed with the presentation of the project Mapping HHT Centers in Europe by Solveig Ezhari from HHT Norway and Claudia Crocione. It was about driving a coordinated effort by all HHT patient organizations to identify and map all centers and teams dedicated to Hereditary Hemorrhagic Telangiectasia. The main objective is to build a solid knowledge base that allows the federation to act as a coordinated community, identify common challenges and develop joint solutions that strengthen patient advocacy and support to clinical centers.

As a preliminary step, a brief survey was carried out that revealed the following:

1. the deficiency of specialized HHT centers.
2. disparities and deficiencies
3. Geographic inequality
4. a huge diagnostic gap due to lack of specialists, delay in diagnosis, coordinated follow-up and neglected clinical areas.

To carry out this project, a Working Group will work to establish priorities and publishing segmented data on a regular basis. The endof 2027 seems like a reasonable date to conclude the work , although the team will remain active to monitor and update the needs of the community on an ongoing basis.

CURRENT ISSUES AT HHT

Starting this session, Dr. Luigi Di Martino told us that the treatment of iron deficiency is a critical component in the management of HHT, given that approximately 50% of patients develop anemia throughout their lives.

The doctor stressed the importance of regular follow-up of the patient through ferritin and hemoglobin analysis, adapting the diagnostic thresholds according to age, sex and the presence of other diseases. As a treatment strategy, he indicated the following guidelines:

1. Oral Iron (First Line): This is the recommended initial treatment.
2. Intravenous (IV) iron: Considered when oral iron is ineffective, not tolerated, contraindicated, or when anemia is severe.
   • There are several formulations (dextrane, ferumoxytol, etc.) with different safety profiles.
   • Risk of hypophosphatemia: It is important to monitor this risk, especially with ferric carboxymaltose, which has an incidence of hypophosphatemia of up to 75% compared to 8% for ferric derisomaltose.
3. Blood transfusions: Should be reserved only for cases of severe or symptomatic anemia, hemodynamic instability, or when iron supplements fail. They should be avoided whenever possible due to risks such as iron overload and allergic reactions

Finally, he pointed out that there may be a comorbidity in iron deficiency that should be carefully managed in heart failure, chronic kidney disease and pregnancy. Also that if a patient suffers from Fe deficiency without frequent bleeding, other causes should be analyzed.

Dr. Eleonora Gaetani then discussed the use of antithrombotic therapies in HHT. The Dr.  stresses that, although traditionally considered a contraindication, patients with HHT often present with conditions such as atrial fibrillation or venous thromboembolism that require anticoagulant treatment. A  personalized risk-benefit assessment approach is emphasized  , where clinical decisions are based on disease severity and patient preferences through shared decision-making. The source details various scientific studies and presents the prospective PRIN study, which seeks to monitor the safety and efficacy of these drugs. Finally, it is highlighted that optimal management requires  systematic multidisciplinary follow-up to control complications such as anemia and nosebleeds during therapy.

Dr. Paolo Farneti, as an ENT expert, told us about the use of local sclerotherapy as an effective intervention to control HHT epistaxis. Dr. Farneti described the procedure by submucosal infiltration of agents such as polidocanol, which causes the collapse of abnormal blood vessels and their subsequent replacement by fibrous tissue. The technique stands out for its low cost and for significantly improving the quality of life. It also underlines the importance of precise execution to prevent complications. In conclusion, it is presented as a good therapy for HHT allowing effective management of recurrent nosebleeds.

Dr. Farneti has been working together with 5 other ENT experts on the development of a consensus protocol to standardize sclerotherapy in HHT patients. The fundamental points of this consensus are: 1- Cheap procedure with quick access that avoids the risk of general anesthesia and improves quality of life. 2-The document establishes clear safety guidelines in the technique to avoid complications as well as the need for the professional to have experience and knowledge in HHT. This effort seeks not only to guide current clinicians, but also to lay the groundwork for a European collaborative network that shares best practices in the treatment of epistaxis by HHT.

To conclude the session, Dr. Cassi Friday, director of the research program at Cure HHT, spoke to us about the need for standardization in the definition of the severity of bleeding in HHT. Through several clinical cases, it is shown that evaluating the success of a treatment based solely on the duration of bleeding or hemoglobin levels can offer conflicting results depending on the patient’s circumstances. Historically, studies have used very different criteria, such as the frequency of episodes or severity scales, which leads to confusion in the scientific data. The document warns that this lack of uniformity causes the failure of clinical trials and delays the development of new drugs.

The new framework, developed by a group of 23 international experts led by the Cure HHT research group, named three domains of severity: Severity of epistaxis using ESS or NOSE-HHT scales, hematological support introducing the RUE concept to combine blood and Fe transfusions in a single measure and the impact on the patient by measuring how bleeding affects daily life and mental health.

BEST PRACTICES

The fourth session shared the positive results of the projects that the organizations have carried out in their countries, namely:

• APP FOR HHT – HHT Spain. Lourdes explained that HHT Spain has developed an innovative digital ecosystem designed to transform HHT management from unreliable paper diaries to a clinical precision tool. The core of this initiative is a mobile application that allows users to easily register symptoms and access personalized emergency protocols using QR codes, facilitating a rapid response in times of crisis. The success of the project lies in its co-design between patients and specialists, prioritizing an extremely simple interface to reduce cognitive fatigue during severe medical episodes. Ultimately, this resource seeks to promote patient autonomy and improve the quality of clinical reports, always guaranteeing data protection and portability of essential medical information.

• Learning through encounter – HHT Germany. In this presentation, Lutz highlighted the importance of creating an informed community through personal encounter. Lutz describes three fundamental pillars for empowering patients: assemblies for the exchange of experiences, practical training sessions in medical techniques, and regional meetings that strengthen the local support network. Finally, the crucial role of his foundation was highlighted, which actively finances and promotes research projects under the motto that the disease must actively seek out scientists.

• First Patient conference – HHT Belgium. In this presentation, Caroline documented the emergence of HHT Belgium, the first patient organization dedicated to this disease in that country, to fill the lack of local representation. With the academic and financial backing of the University of UZ Leuven, the association has achieved significant milestones such as the launch of its website, the realization of charity sales of sweets and recognition at the Edelweiss 2025 awards. The purpose of the text is to share a roadmap for success, emphasizing collaboration with medical experts and the formation of a strong internal structure. Ultimately, the source celebrates the growth of a community that seeks visibility and fundraising to improve the lives of those affected.

• Little Red Campaign – HHT Ireland. At This time Dara introduced us to Little Red, a mascot created by HHT Ireland to humanize the experience of those suffering from Hereditary Hemorrhagic Telangiectasia. The document details how this character acts as an emotional bridge between clinical data and the patient’s everyday reality, offering comfort and a voice to those who feel exhausted by the disease. Through initiatives such as certificates of courage for children, dental health campaigns, and virtual meetups, the project seeks to foster community and increase HHT’s global visibility. Ultimately, it illustrates how empathy-based activism can strengthen the connection between patients, families, and medical professionals beyond statistics.

• Booklet for Young HHT Patients – Onilde Carini APS. Guiuseppe in this presentation detailed the launch of an informational brochure designed for young people with HHT. The document is an Italian adaptation of a French project, created to ease the anxieties of teenagers through a pocket-sized format that addresses critical issues such as genetic inheritance, management of nosebleeds and professional futures. The fundamental purpose of the Onilde Carini APS with this publication is  to disseminate medical knowledge in an accessible way, adding this resource to a specialized library that seeks to improve the quality of life of patients. By offering this material free of charge, the organization reaffirms its commitment to the education and emotional support of the new generations who live with HHT.

• Active participation in Research – HHT Italia APS. Giulia shared the evolution of HHT Italia with us from a passive role to a genuine scientific collaboration in rare disease research. The organization proposes a cultural paradigm shift where the patient stops offering simple symbolic endorsements to become a strategic partner with a voice in all stages of project development. To formalise this transition, they have implemented a methodological roadmap that ensures that community engagement brings real scientific value and tangible results. This approach not only professionalizes patient advocacy, but ensures that the priorities of those affected dictate the course of new clinical and academic advances.

EVIDENCE-BASED PATIENT ADVOCACY

The last session focused on highlighting the importance of the patient’s voice through the presentation of HHT Netherlands where Bas told us about the strategy called “patient-driven agenda setting”, designed for people with HHT to directly influence research and medical advocacy priorities. Through a process that combines open dialogue with structured data collection, organizers seek to transform patients’ everyday experiences into concrete institutional goals. The initiative not only manages to identify the most urgent needs of the community, but also encourages active participation, resulting in a significant increase in volunteers and leaders committed to the organization. Bas proposes a model of collaboration between patients and researchers based on the creation of safe environments and the facilitation of processes that empower the voice of those living with the disease.

To conclude our event, Claudia spoke about evidence-based patient advocacy, where noos details how patient organizations can transform their personal experiences into real-world evidence to drive legislative and social actions with measurable impact. The content is structured through data collection methods, ranging from helpline monitoring and informal surveys to complex projects such as patient journey mapping  to identify gaps in diagnosis and treatment. The main objective is to promote evidence-based advocacy, providing associations with tools and training so that their testimonies acquire the  necessary credibility and authority before health policy makers. By professionalizing the collection of information on symptoms and quality of life, HHT Europe seeks to unify the efforts of communities to influence research and improve clinical outcomes globally.

The congress ended with an emotional open microphone where the participants shared their positive impressions of the meeting. Finally, Bienve made a call to actively participate in HHT Europe in specific tasks or by participating in working groups for the federation’s strategic projects.