CUN and CIMA are studying the use of probiotics to improve metabolism in patients with porphyria.

Hospital of the University of Navarra And CIMA University of Navarra initiated a pioneering study (PROPAI) on use of oral probiotics and postbiotics to improve the imbalance of glucose metabolism in patients with acute intermittent porphyria, a rare disease characterized by attacks of abdominal pain, mental changes and neurological disorders.

After experimenting with preclinical models, the researchers aim to go further and offer therapeutic alternatives to these patients “who suffer from significant changes in carbohydrate metabolism that cause insulin resistance, prediabetes and diabetes. In studies conducted on mice, we noticed that certain probiotics can normalize these changes. Now our goal is to transfer these discoveries to people,” explains the researcher. Dr. Isabel Solares, General Practitioner at the University of Navarra Hospital and responsible for consultations on rare diseases.

This study represents another step in development of innovative precision treatment methods for people suffering from this hereditary disease. “At CIMA we are committed to this type of treatment using therapeutic RNA for diseases such as porphyria. In particular, in our laboratory we tested the therapeutic efficacy and safety of introducing messenger RNAs in various experimental models of acute porphyria,” explains the doctor. Dr. Antonio Fontanellas, Principal Investigator of the Hepatology: Porphyria and Carcinogenesis Research Group at CIMA.

Called porphyria seven rare diseases grouped togetherIn most cases, hereditary transmission results in defects in the function of proteins involved in the metabolism of heme, an important substance produced in the liver. Despite the low incidence and lack of cure for porphyria, research has led to advances in treatments that significantly improve the quality of life for these patients, their families and caregivers.

“Porphyrias are chronic diseases that can affect various organs and also have important psychological and quality of life effects,” explains Dr. Dr. Delia D’Avola, specialist in hepatology and internal medicine at the clinic. An adequate therapeutic approach to the disease requires the work of “an integrated multidisciplinary team capable of preventing and treating acute outbreaks of the disease, and improving the quality of life of these patients,” he continues. In the context of rare diseases, this collaboration becomes even more important, “given resource constraints and small patient numbers necessitate the integration of clinical data, results, and efforts.”

WORKSHOP “EMOTIONS AND ART” WITH AN INTEGRATED APPROACH TO THE PATIENT

The University of Navarra Clinic, together with CIMA and the Spanish Porphyria Association, organized the first workshop “Emotions and Art”, an initiative aimed at addressing the emotional and social sphere of people with porphyria, creating a space for self-expression and support for both patients and patients. and their families and caregivers.

As Dr. Isabel Solares emphasizes, “Many patients with a minority disease experience feelings of loneliness, helplessness and misunderstanding. Through events like these, we try to help them develop emotional connections and mutual support.”

Dr. Fontanellas emphasizes that “we are developing a series of practical workshops focused on different thematic areas to stimulate social interaction and contribute to significant improvements in the physical and psychological well-being of patients with porphyria and their immediate environment, as we know the importance” that relationships have in improving quality of life for those suffering from this rare disease.”