Bellvitge Advances Toward Personalized ALS Care Through Novel Biomarkers and Digital Technologies
核心洞察
Two new studies from Bellvitge University Hospital and IDIBELL (搜索) identify molecular signatures and digital tools that may enable more personalized monitoring of amyotrophic lateral sclerosis (搜索) (ALS) progression.
A Brain Pathology study found that aggressive ALS forms have distinct cerebrospinal fluid protein signatures, identifying CXCL7 (搜索) as a potential complementary biomarker to neurofilaments (搜索).
An international study in Annals of Clinical and Translational Neurology demonstrated that home-based digital tools, particularly speech assessments, reliably reflect functional status in ALS patients.
Two studies involving the Bellvitge University Hospital and the Bellvitge Biomedical Research Institute (IDIBELL (搜索)) are providing new tools to better understand the heterogeneity of amyotrophic lateral sclerosis (搜索) (ALS) and move toward precision medicine, with monitoring and research strategies adapted to individual patient characteristics.
The research, announced in conjunction with World ALS Day on June 21, demonstrates how combining biological biomarkers with digital technologies can help clinicians better anticipate disease progression and facilitate more personalized monitoring.
"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," said 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 (搜索).
Molecular signatures distinguish aggressive ALS
Despite sharing the same diagnosis, people with ALS can experience markedly different outcomes. While some cases progress relatively slowly, others involve rapid functional loss. To better understand these differences, a study published in the journal Brain Pathology analyzed hundreds of proteins present in the cerebrospinal fluid of people with ALS at the time of diagnosis.
The results revealed that the most aggressive forms of the disease carry specific molecular signatures related to inflammatory processes, alterations in cell protection mechanisms, and changes in communication between neurons. The research also identified the CXCL7 (搜索) protein as a possible complementary biomarker to neurofilaments (搜索), which are currently the most consolidated prognostic marker in ALS.
The research team believes this type of tool could contribute to better stratifying affected individuals, personalizing clinical follow-up, and improving the design of clinical trials.
Digital technologies bring monitoring into the home
Personalized medicine in ALS extends beyond biomarkers. An international study published in the Annals of Clinical and Translational Neurology evaluated digital tools that allow people with ALS to perform speech, mobility, respiratory function, and manual skill tests from home. The results showed that some of these measures, especially those related to speech, reliably reflect the functional status of participants.
These technologies could facilitate more frequent and less invasive monitoring, reduce the burden associated with travel to clinical sites, and promote more accessible participation in clinical studies and research projects.
"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," Dr. Povedano explained.
Toward integrated precision medicine
The vision articulated by the Bellvitge team involves integrating multiple sources of information—biological biomarkers, genetic data, digital technologies, and specialized clinical assessment—to build models capable of better predicting individual disease trajectories, facilitating healthcare decision-making, and accelerating the development of new treatments aimed at specific subgroups of the disease.
"The future of ALS care will involve integrating different sources of information: biological biomarkers, genetic data, digital technologies and specialized clinical assessment," said Dr. Povedano.
ALS is a rare neurodegenerative disease affecting approximately 1 in 20,000 people, with no cure currently available and only treatments that help slow its progression. The Functional Motor Neuron Unit at Bellvitge University Hospital is one of the main reference units for 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, specialized nursing, and palliative care to offer multidisciplinary care throughout all phases of the disease.
Its research activity is conducted within the framework of REMMA (Research in Rare Adult Diseases), a program promoted by IDIBELL (搜索) with the involvement of Bellvitge University Hospital and the Catalan Institute of Oncology to accelerate translational research and innovation in rare diseases.