Valentín Urbina had always led a very active life. He enjoyed going on excursions, hiking in the mountains and swimming, until he began to notice that something was wrong: things would slip from his hands, he would fall to the ground, and moving became increasingly difficult. In June 2021, he received the diagnosis: he had ALS (amyotrophic lateral sclerosis), a neurodegenerative disease that affects motor neurons and eventually compromises essential functions such as walking, speaking, swallowing, or breathing, leading to increasing dependence. In Valentín’s case, the progression has been slow. To this day, he can still speak and move his hands a little, but he needs support for basic activities such as eating, getting dressed, or going to the bathroom. As he himself explains, “although at first you feel fine, little by little the disease takes over and traps you inside your own body.” In other patients, total loss of mobility occurs much sooner.

Each ALS patient follows a unique course, but the disease often progresses over just a few years. It is a rare disease—affecting approximately 1 in 20,000 people—and it has no cure, only treatments that help slow its progression. Within the adult rare diseases research program at Bellvitge, REMMA Bellvitge, the team led by Dr. Mónica Povedano has been working for years to provide answers for ALS patients.

Research that accompanies the patient

For Valentín, this disease has profoundly changed his daily life, but not the way he faces it: he approaches it calmly and with a positive attitude that, he says, even encourages many of the people around him. He also feels deeply grateful to Bellvitge because, from the very beginning, he has felt supported, listened to, and well informed.

Since ALS still has no cure, care and follow-up are at the heart of medical attention. His follow-up takes place approximately every three months and involves different professionals according to his needs: neurologists, physiotherapists, pneumologists, speech therapists, nutritionists… as well as external professionals such as social workers, in this case through the Miquel Valls Foundation. Valentín’s care is mainly led by Dr. Raúl Domínguez, neurologist and researcher at Bellvitge, and thanks to collaboration among all these professionals, the disease can be addressed in an integral and personalized way, accompanying the patient while driving research forward.

This is the focus of REMMA Bellvitge: the connection between clinical experience and research. The motor neuron team is part of the research group on neurological diseases and neurogenetics at IDIBELL, which also has a laboratory where experimental projects are developed to answer questions arising from clinical practice.

Participate in research to help other patients

“To advance knowledge of ALS and change patients’ future, collaborative work between clinicians, laboratory researchers, and patients is essential,” explains Dr. Povedano, principal investigator in neurological diseases at IDIBELL. Currently, ALS research is moving toward precision medicine, with prognostic tools and therapies that take into account each patient’s unique characteristics. One line of research focuses on identifying biomarkers that help better predict disease progression and personalize treatment. This requires specialized and interdisciplinary teams that cover a large part of the population, address the wide variability of the disease among patients, and are able to conduct high-quality research. Bellvitge’s population coverage, together with the presence of neuroscience laboratories on the same campus, fosters research with national and international impact.

In rare diseases such as ALS, patient participation is especially essential. To better understand how the disease begins and progresses, longitudinal follow-up is needed, along with the collection of clinical data and voluntarily donated biological samples. In this regard, Valentín also sees his relationship with Bellvitge as a way of contributing to research and giving meaning to his situation. He himself explains that he has “donated my data and samples so that they can investigate and shed light on this disease, in order to understand why it appears.” His experience can help both current and future patients.

Although results are still limited, the accumulated knowledge is helping advance the identification of therapeutic targets and participation in clinical trials, always with the goal of offering more suitable options for each patient.

We research singular challenges together

ALS is one of more than 400 adult rare diseases studied by REMMA Bellvitge, the program promoted by IDIBELL at the Bellvitge Health Campus and the first in Spain specialized in these conditions. Bellvitge is a reference center for adult rare diseases thanks to the concentration of expertise, coordination among different disciplines, wide territorial coverage, and the integration of clinical care and laboratory research on the same campus. In these conditions, each case is a complex and unique challenge that can only be addressed with a diverse and comprehensive approach. To accelerate diagnosis, discover treatments, and better support patients, at REMMA Bellvitge we research singular challenges together.