Porphyrias

"We are working on the characterization of new markers for the early detection and progression of acute intermittent porphyria and the development of novel therapeutic strategies."

DR. ANTONIO FONTANELLAS ROMÁ
RESEARCHER. PORPHYRIAS RESEARCH GROUP

The Porphyrias Research Group at Cima is formed by expert researchers and clinicians with more than 30 years of experience in the study of these diseases, especially focused on acute intermittent porphyria, a rare genetic disease of hepatic origin that affects approximately 5 out of every 100,000 inhabitants. 

The aim of this group is to find mechanisms for the early detection of acute intermittent porphyria before the first symptoms appear and to develop innovative strategies based on gene therapy and cutting-edge biotechnological products that improve the quality of life of people affected by this disease. 

Thus, the group's efforts are focused on the development of new drugs to resolve some of the effects caused by the genetic mutation that causes the disease (elimination of the metabolic blockage in the liver) and the design of therapeutic strategies to alleviate the symptoms.

Its researchers collaborate with the Navarra Hospital Complex, the Tudela Hospital and other national and international groups dedicated to porphyria.

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Objectives of the
Acute Porphyrias Research Group


To discover messenger RNAs (mRNAs) that act on the origin of the disease and rapidly correct the symptoms of porphyria in preclinical models.


Identify therapeutic targets and develop strategies for prevention and treatment.


To discover the molecular mechanisms causing inherited metabolic diseases such as porphyria.

Porphyria lacks a cure so research is essential

EUROPEAN PORPHYRIA NETWORK

Reference Center

The Hepatology Unit of the Clinic has been accredited by the EPNET (European Porphyria Network) as a reference center for the diagnosis and treatment of this disease.

Acute porphyrias is a hereditary disease that is studied at the Clinic and the Cima through this research area of the Hepatology Program with Drs. Antonio Fontanellas and Delia D'Avola. 

FROM THE LABORATORY TO THE PATIENT

Cutting-edge translational research

Conscientes del impacto que producen en la población y, consecuentemente en el gasto sanitario, el Programa de Hepatología se centra en conocer los mecanismos celulares y moleculares de la respuesta hepática a la lesión aguda y crónica.


Hepatic lesions

Study of the causes that lead to liver damage and its behavior, which will make it possible to enhance the defense mechanisms and find new treatments.


Liver cirrhosis

When cirrhosis appears, it is irreversible and, if decompensated, the only definitive solution is liver transplantation. Our research is looking for mechanisms to prevent its onset or to slow its progression.


Liver cancer

We do research not only in immunotherapy, but also in the development and knowledge of targeted treatments that aim to identify molecular alterations in liver cells.

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Meet the research team