Knowing how the disease will evolve is one of the most frequent questions asked by people with amyotrophic lateral sclerosis (ALS) and their families after diagnosis. Despite the advances of recent years, it is still difficult to predict precisely what the evolution of each case will be.
Now, two studies with the participation of the Bellvitge University Hospital and the Bellvitge Biomedical Research Institute (IDIBELL) provide new tools to better understand this diversity and move towards precision medicine in ALS, with monitoring and research strategies adapted to the characteristics of each person.
Coinciding with World ALS Day, which is celebrated every June 21, Bellvitge’s studies show how the combination of biological biomarkers and digital technologies can help to better anticipate the evolution of the disease and facilitate more personalized monitoring.
“The big question that people with ALS ask us is what will happen from now on. We cannot yet answer it exactly, but we have more and more tools to better understand the different forms of the disease and adapt care,” explains Dr. Mónica Povedano, coordinator of the Motor Neuron Functional Unit at Bellvitge Hospital and member of the Neurological Diseases and Neurogenetics research group at IDIBELL.
ALS is not the same for everyone
Despite sharing the same diagnosis, people with ALS can have very different outcomes. While in some cases the progression is relatively slow, in others the functional loss progresses more rapidly.
To better understand these differences, a study recently published in the journal Brain Pathology has analyzed hundreds of proteins present in the cerebrospinal fluid of people with ALS at the time of diagnosis. The results show that the most aggressive forms of the disease have specific molecular signatures related to inflammatory processes, alterations in cell protection mechanisms and changes in communication between neurons.
The research also identifies the CXCL7 protein as a possible complementary biomarker to neurofilaments, currently the most consolidated prognostic marker in ALS. The research team believes that this type of tool could contribute in the future to better stratify affected people, personalize clinical follow-up and improve the design of clinical trials.
Home, a new source of clinical information
Personalized medicine in ALS does not depend only on biomarkers. Another line of research explores the potential of digital technologies to obtain continuous information on the evolution of the disease from home.
An international study published in the Annals of Clinical and Translational Neurology has evaluated different digital tools that allow people with ALS to perform speech, mobility, respiratory function and manual skill tests from home. The results show that some of these measures, especially those related to speech, reliably reflect the functional status of the participants.
These technologies could facilitate more frequent and less invasive monitoring, reduce the burden associated with travel, and promote more accessible participation in clinical studies and research projects.
Towards precision medicine in ALS
“The future of ALS care will involve integrating different sources of information: biological biomarkers, genetic data, digital technologies and specialized clinical assessment,” says Dr. Povedano.
The aim is to build models capable of better predicting the individual evolution of each person, facilitate healthcare decision-making and accelerate the development of new treatments aimed at specific subgroups of the disease.
“Today we know that ALS is much more heterogeneous than we thought a few years ago. Understanding this diversity is essential to offer more precise care and move towards truly personalised treatments“, highlights the neurologist and researcher at Bellvitge.
A benchmark in ALS in Catalonia
The Functional Motor Neuron Unit of the Bellvitge University Hospital is one of the main reference units in ALS in Europe and cares for approximately 80% of people with this disease in Catalonia. The unit integrates professionals from neurology, pulmonology, rehabilitation, nutrition, psychology, social work, specialised nursing and palliative care to offer multidisciplinary care throughout all phases of the disease.
Its healthcare activity is complemented by intense research activity carried out within the framework of REMMA (Research in Rare Adult Diseases), a programme promoted by IDIBELL and with the involvement of the Bellvitge University Hospital and the Catalan Institute of Oncology to accelerate translational research and innovation in rare diseases.
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 local hospital for the citizens of L’Hospitalet and El Prat de Llobregat and a reference centre of maximum complexity for 2 million people, the entire southern axis of Catalonia. It is the Catalan health centre that performs the most complex surgery, especially oncological surgery, and is part of the Bellvitge Health Campus, recognised by the Organisation of European Cancer Institutes (OECI) as a Comprehensive Cancer Centre for its excellence in cancer care, research and teaching.
It integrates in the projects the orientation to improve the patient experience and networking with primary care and the surrounding hospitals. Oriented towards personalised medicine, it has the best genetic diagnosis and imaging tools for cancer and rare diseases, which are complemented by the High Precision Diagnostic Centre, which has the first PET/Magnetic Resonance Imaging in the healthcare network in Spain. It registers about 26,000 major surgery interventions annually; 39,000 discharges; 400,000 outpatient visits and about 100,000 diagnostic tests.
About IDIBELL
The Bellvitge Biomedical Research Institute (IDIBELL) is a research centre created in 2004 and specialising 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 a year. L’IDIBELL is participated by the Bellvitge University Hospital and the Viladecans Hospital of the Catalan Health Institute, 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 d’Excelencia Internacional 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 has been an Accredited Centre of the AECC Scientific Foundation (FCAECC).