The Bellvitge University Hospital and the Bellvitge Biomedical Research Institute (IDIBELL) have participated in an international clinical trial that represents a scientific and healthcare breakthrough in the approach to hereditary hemorrhagic telangiectasia (HHT), or Rendu-Osler disease. This rare disease affects one in 6,000 people and, until now, did not have any specific approved treatment

The study, published in the New England Journal of Medicine, evaluates engarsertib, the first molecule created exclusively to intervene in the mechanism that causes the disease. It is the first trial to demonstrate the effectiveness of a molecule specifically developed for HT in an international, double-blind, randomized and placebo-controlled study. The data show very significant reductions in both the duration and frequency of nasal bleeding, which in some cases can last for hours and require repeated transfusions. These reductions lead to a direct improvement in the quality of life of the people affected, for whom recurrent bleeding and the need for intravenous iron or transfusions are part of everyday life.

The HHT Unit of Bellvitge Hospital, the largest in Spain with almost 500 patients attended, has been one of the eight centers selected worldwide to participate in the trial. With 23 people recruited from the 75 total participants, it has been the second center in the world in terms of case contribution, consolidating its role as an international benchmark in this pathology

The first molecule developed specifically for HHT

Dr. Antoni Riera-Mestre, head of the Internal Medicine Service, head of the HHT Unit at Bellvitge Hospital and head of the Systemic, Vascular and Aging Diseases group at IDIBELL, highlights the role of the center in the study: “For the first time we have a molecule specifically created for HHT. The data indicate that it is able to modify the course of the disease and reduce the bleeding that most affects the quality of life of the affected people”.

The doctor himself underlines the role of the centre: “This project is the result of sustained work by the HHT Unit of Bellvitge Hospital and confirms the importance of having multidisciplinary teams specialized in minority diseases. At the same time, it demonstrates the capacity of the Bellvitge Health Campus to contribute to international studies that define the future of clinical practice”.

A paradigm shift for affected people

Dr. Raquel Torres, doctor of the Internal Medicine Service, member of the HHT Unit and researcher at IDIBELL, underlines the welfare value of this advance: “People with HHT live with daily bleeding that can be very prolonged, with severe anemia and an associated emotional burden that is often invisible. Having a treatment to act on the mechanism that causes the disease is a paradigm shift.”

According to the doctor, engasertib has a favorable safety profile and marks the beginning of a new stage: “Until now we used off-label drugs, many of them from oncology and with significant adverse effects. Thanks to this study we have been able to validate a specific treatment, safer and more adjusted to the needs of people with HHT”.

Bellvitge, a reference centre for rare diseases and clinical research

Although the engasertib is not yet approved, the results published in NEJM represent the strongest proof of concept so far and open the door to the extension study with a higher follow-up time and more centers around the world, as well as future studies that could lead to the first approved treatment for HHT.

Participation in this study strengthens Bellvitge Hospital as a reference center in rare diseases, with an HHT Unit recognized for its dimension, expertise and multidisciplinary approach. This unit integrates professionals in internal medicine, pneumology, otorhinolaryngology, digestive, neurology, interventionist radiology and specialized nursing, as well as a basic research team from IDIBELL.

Bellvitge Hospital and IDIBELL will continue to collaborate in international projects that will allow these results to be transferred to clinical practice and improve care for people with HHT.

About Bellvitge University Hospital

Bellvitge Hospital is a public, university, research and innovative hospital. With more than 5,200 expert and committed professionals, it is the hospital of proximity of the citizens of L’Hospitalet and El Prat de Llobregat and reference center of maximum complexity for 2 million people, all the southern axis of Catalonia. It is the Catalan health center that performs the most complex surgery, especially oncological surgery, and is part of the Bellvitge Health Campus, recognized by the Organization of European Cancer Institutes (OECI) as a Comprehensive Cancer Center for its excellence in cancer care, research and teaching. It integrates in the projects the orientation to the improvement of the patient experience and the networking with primary care and hospital centers in the environment. Oriented to personalized medicine, it has the best genetic diagnosis and imaging tools for cancer and rare diseases, which are complemented by the High Precision Diagnostic Center, which has the first PET / Magnetic Resonance of the healthcare network in Spain. It records approximately 26,000 major surgery interventions annually; 39,000 high; 400,000 outpatient visits and about 100,000 diagnostic tests.

About IDIBELL

The Bellvitge Biomedical Research Institute (IDIBELL) is a research center created in 2004 and specialized in cancer, neuroscience, translational medicine and regenerative medicine. It has a team of more than 1,500 professionals who, from 73 research groups, publish more than 1,400 scientific articles per year. IDIBELL is participated by the Bellvitge University Hospital and the Viladecans Hospital of the Catalan Institute of Health, the Catalan Institute of Oncology, the University of Barcelona and the City Council of L ‘Hospitalet de Llobregat.

IDIBELL is a member of the Campus of International Excellence of the University of Barcelona HUBc and is part of the CERCA institution of the Generalitat de Catalunya. In 2009 it became one of the first five Spanish research centres accredited as a health research institute by the Carlos III Health Institute. In addition, it is part of the HR Excellence in Research program of the European Union and is a member of EATRIS and REGIC. Since 2018, IDIBELL is an Accredited Center of the AECC Scientific Foundation (FCAECC).