The global Landscape of ALS: A combined Analysis of Patient Experiences (IMPACT-ALS) and epidemiological Characteristics (LAENALS) in Europe and Latin America

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder characterized by degeneration of upper and lower motor neurons in the motor cortex, brainstem, and spinal cord, leading to muscle weakness, paralysis, and respiratory failure. Despite decades of research, its etiology and pathophysiology remain only partially understood. The disease shows marked clinical, genetic, and prognostic heterogeneity, suggesting combined genetic, epigenetic, and environmental influences. Most epidemiological data derive from European populations, while information from other regions and patient-centered perspectives remains scarce. This doctoral thesis seeks to bridge these gaps by integrating epidemiological, experiential, and professional perspectives through three complementary studies conducted in Europe and Latin America, aiming to promote a more global and person-centered understanding of ALS. The first study, “LAENALS: Epidemiological and clinical features of amyotrophic lateral sclerosis in Latin America,” established the first harmonized ALS registry in Latin America (Uruguay, Chile, and Cuba). Standardized data collection enabled estimation of incidence, phenotype, and survival. Crude incidence rates were lower than in European cohorts (1.73 per 100,000 in Uruguay; 1.08 in Chile; 0.20 in Cuba). Mean onset age was 61 years, and median survival ranged from 24 to 32 months. The classical spinal-onset phenotype predominated. These results suggest that ancestry composition and environmental exposures influence ALS risk and expression. LAENALS expands the global ALS map and highlights the need to include underrepresented populations to better understand disease variability. The second study, “IMPACT-ALS: Summary of results from a European survey of people living with ALS,” was a multinational online survey of 857 participants from nine European countries. It explored functional burden, psychological adaptation, and patient priorities. The most frequent symptoms were weakness (81%), fatigue (61%), speech difficulties (38%), pain (27%), and mood alterations (23%). Despite progressive disability, self-rated quality of life remained moderate (median 6/10), reflecting a “well-being paradox” of psychological adjustment despite physical decline. Main fears included “leaving family too soon” and “dying from respiratory failure,” while halting disease progression was the most desired therapeutic goal. This study illustrates how people with ALS adapt and prioritize care needs, underscoring the multidimensional nature of the disease. The third study, “Utilization of patient-reported outcome measures in amyotrophic lateral sclerosis management: a cross-sectional study of Spanish neurologists,” analyzed attitudes and barriers to implementing patient-reported outcome measures (PROMs) in clinical practice. Although 93% of neurologists were familiar with PROMs, only 18% used them regularly. Neither experience nor workplace predicted greater use; however, those managing more ALS patients applied them more frequently. The main barriers cited were limited time and training, though findings indicate that conceptual and organizational issues are more relevant. Neurologists recognized the usefulness of PROMs for detecting non-motor symptoms, improving communication, and supporting shared decision-making. Together, these studies reframe ALS from a global and multidimensional perspective. LAENALS broadens epidemiology by incorporating admixed Latin American populations and highlights ancestry–environment interplay. IMPACT-ALS elucidates how people with ALS adapt and reprioritise goals across the disease course. The PROMs study reveals the implementation gap in patient-centred tools within real-world neurology. By integrating epidemiological, experiential, and professional data, the thesis supports a shift toward inclusive research and care models that align scientific progress with lived experience and decision-making.

Author dc:creator

• Vélez Gómez, Beatriz

Advisors dc:contributor.advisor

• Cabrera Serrano, Macarena
• Hardiman, Orla
• Paradas López, Carmen ‎

Statement dc:rights

• Attribution 4.0 International

Licence dc:rights.uri

• http://creativecommons.org/licenses/by/4.0/

Language dc:language.iso

eng

Handle dc:identifier.uri

https://hdl.handle.net/11441/186596

OAI identifier oai:identifier

oai:idus.us.es:11441/186596