Publications

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Volume 26, 2025 – Issue sup1: The European ALS Landscape: Findings from the Precision ALS Network resource.
Guest Editor: Angela Genge

Galvin, M., Heverin, M., Mac Domhnaill, É., Mcfarlane, R., Meldrum, D., Murray, D., Bolger, A., Connelly, J., Flynn, K., Fox, E., Gibbons, F., Hederman, L., Impey, S., O’Keefe, I., O’Meara, C., McKibben, D., Nicholson, M., Stephens, G., Van Dijk, J., Van Den Berg, L., and Hardiman, O. (2025). Challenges and solutions to complex data governance issues in cross-national, cross-sectoral, multidisciplinary real world health research: a descriptive overview. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 26(sup1), 1–7. https://doi.org/10.1080/21678421.2024.2428927

Caravaca Puchades, A., McDonough, H. E., Al-Chalabi, A., Chiò, A., Corcia, P., Galvin, M., Hardiman, O., Heverin, M., Hobin, F., Holmdahl, O., Ingre, C., Lamaire, N., Mac Domhnaill, É., Manera, U., McFarlane, R., Mouzouri, M., Ombelet, F., Opie-Martin, S., Sennfält, S., Terrafeta Pastor, C., Veldink, J.H., Van Damme, P., van den Berg, L., van Eijk, R.P.A., Vasta, R., Weemering, D.N., Shaw, P., McDermott, C.J. and Povedano Panadés, M. (2025). Mapping the natural history of amyotrophic lateral sclerosis: time-to-event analysis of clinical milestones in the pan-European, population-based PRECISION-ALS cohort. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 26(sup1), 8–19. https://doi.org/10.1080/21678421.2024.2448535

McDonough, H., McFarlane, R., Caravaca Puchades, A., Chiò, A., Corcia, P., Galvin, M., Heverin, M., Hobin, F., Holmdahl, O., Ingre, C., Lamaire, N., Mac Domhnaill, É., Manera, U., Mouzouri, M., Ombelet, F., Opie-Martin, S., Povedano Panadés, M., Sennfält, S., Terrafeta Pastor, C., Veldink, J.H., van Damme, P., van Den Berg, L., van Eijk, R.P.A., Vasta, R, Weemering, D.N., Al-Chalabi, A., Shaw, P., McDermott, C.J. and Hardiman, O. (2025). Examining changing working status and caregiver assistance in amyotrophic lateral sclerosis (ALS) using large-scale European databases as part of PRECISION-ALS. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 26(sup1), 20–29. https://doi.org/10.1080/21678421.2024.2448536

van Eijk, R. P. A., Weemering, D. N., Opie-Martin, S., van Unnik, J. W. J., Caravaca Puchades, A., Chiò, A., Corcia, P., Galvin, M., Hardiman, O., Heverin, M., Hobin, F., Holmdahl, O., Ingre, C., Lamaire, N., Mac Domhnaill, É., McDonough, H., Manera, U., McDermott, C.J., McFarlane, R., Mouzouri, M., Ombelet, F., Povedano Panadés, M., Sennfält, S., Shaw, P.J., Terrafeta Pastor, C., Van Damme, P., Vasta, R., Veldink, J.H., Al-Chalabi, A. and van den Berg, L. H. (2025). Natural history of the revised ALS functional rating scale and its association with survival: the PRECISION-ALS Extant Study. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 26(sup1), 30–40. https://doi.org/10.1080/21678421.2024.2443985

McFarlane, R., Opie-Martin, S., Caravaca Puchades, A., Chiò, A., Corcia, P., Galvin, M., Heverin, M., Hobin, F., Holmdahl, O., Ingre, C., Lamaire, N., Mac Domhnaill, É., Manera, U., McDermott, C.J., McDonough, H., Mouzouri, M., Ombelet, F., Povedano Panadés, M., Sennfält, S., Shaw, P., Terrafeta Pastor, C., Veldink, J.H., Van Damme, P., van den Berg, L., Van Eijk, R.P.A., Vasta, R., Weemering, D.N., Al-Chalabi, A. and Hardiman, O. (2025). Clinical trajectories of genetic variants in ALS: a European observational study within PRECISION-ALS. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 26(sup1), 41–49. https://doi.org/10.1080/21678421.2025.2450805

Vasta, R., Ombelet, F., Hobin, F., Manera, U., Ammar, A. C., Caravaca Puchades, A., Corcia, P., Galvin, M., Hardiman, O., Heverin, M., Holmdahl, O., Ingre, C., Lamaire, N., McDermott, C., Mac Domhnaill, É., McDonough, H., McFarlane, R., Mouzouri, M., Opie-Martin, S., Povedano Panadés, M., Sennfält, S., Shaw, P., Terrafeta Pastor, C., van den Berg, L.H., van Eijk, R.P.A., Veldink, J.H., Weemering, D.N, Van Damme, P. and Chiò, A. (2025). Real-world prognostic role of riluzole use in ALS: a multi-center study from PRECISION-ALS. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 26(sup1), 50–60. https://doi.org/10.1080/21678421.2025.2472889

Sennfält, S., Al-Chalabi, A., Caravaca Puchades, A., Chiò, A., Corcia, P., Galvin, M., Hardiman, O., Heverin, M., Hobin, F., Holmdahl, O., Lamaire, N., Mac Domhnaill, É., McDonough, H., Manera, U., McDermott, C.J., McFarlane, R., Mouzouri, M., Ombelet, F., Opie-Martin, S., Povedano Panadés, M., Shaw, P., Terrafeta Pastor, C., Van Damme, P., van den Berg, L., van Eijk, R.P.A., Vasta, R., Veldink, J.H., Weemering, D.N. and Ingre, C. (2025). Respiratory function, survival, and NIV prevalence over time in ALS – a PRECISION ALS study. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 26(sup1), 61–72. https://doi.org/10.1080/21678421.2025.2454923

Further Publications

Tappenden, P., Hardiman, O., Kwon, S.H., Mon-Yee, M., Galvin, M., McDermott, C. (2024). ALS-CarE Study Group. A Model-Based Economic Evaluation of Hypothetical Treatments for Amyotrophic Lateral Sclerosis in the UK: Implications for Pricing of New and Emerging Health Technologies. Pharmacoeconomics. 42(9):1003-1016. doi: 10.1007/s40273-024-01395-7. Epub: 2024 May 31. PMID: 38819717.

De La Varga Anjoja, F. (2024). Query builder for longitudinal multimodal data set for Precision ALS. [Bachelor’s Thesis, Barcelona Faculty of Informatics (FIB) & Polytechnic University of Catalonia (UPC)]. UPC repository. http://hdl.handle.net/2117/414299.

Impey, S., Turner, J., Gibbons, F., Bolger, A., Stephens, G., Hederman, L., O’Meara, C., De La Varga Antoja, F., Kommala, J., Nicholson, M., Farrell, D., Morrin, E., Galvin, M., Heverin, M., MacDomhnaill, É., McFarlane, R., Meldrum, D., Murray, D., Hardiman, O. (2023, November 13). Dataset, Usability and Process – Developing an Interdisciplinary, Multi-modal Data Collection Tool and Platform for a Rare Disease. The Eighth International Conference on Informatics and Assistive Technologies for Health-Care, Medical Support and Wellbeing, HEALTHINFO 2023, pp26-29. URL.

McFarlane, R., Peelo, C., Galvin, M., Heverin, M., Hardiman, O. (2023). Epidemiologic Trends of Amyotrophic Lateral Sclerosis in Ireland, 1996–2021. Neurology, 101(19):e1905-e1912. doi: 10.1212/wnl.0000000000207797.

Impey, S., Berry, D., Furtado, S., Galvin, M., Grogan, L., Hardiman, O., Hederman, L., Heverin, M., Wade, V., Douris, L., O’Sullivan, D., Stephens, G. (2023). Eliciting and Confirming Data, Information, Knowledge and Wisdom in a Specialist Health Care Setting. International Journal of Computing and Information Engineering, 17(6):350-360. URL.

McFarlane, R.,  Galvin, M.,  Heverin, M.,  Mac Domhnaill, É., Murray , D., Meldrum, D.,  Bede , P., Bolger, A.,  Hederman, L., Impey, S., Stephens, G., O’Meara, C., Wade, V., Al-Chalabi, A., Chiò, A., Corcia, P., van Damme, P.,  Ingre, C., McDermott, C.,  Povedanos, van den Berg, L., Hardiman, O. (2023). PRECISION ALS—an integrated pan European patient data platform for ALS. Amyotroph Lateral Scler Frontotemporal Degener, 24(5-6):389-393. doi: 10.1080/21678421.2023.2215838.

Impey, S., Turner, J., Gibbons, F., Bolger, A., Stephens, G., Hederman, L., O’Meara, C., De La Varga, F., Kommala, J., Nicholson, M., Farrell, D., Morrin, E., Galvin, M. (2024). Developing a Process for Gathering and Managing Multi-site User Feedback for a Data Collection Project in a Rare Disease Setting. Using Design Science to Explicate a Knowledge Contribution. International Journal on Advances in Life Sciences, 16(1-2):56-66. URL.

Turner, J., Impey, S., Gibbons, F., Bolger, A., Stephens, G., Hederman, L., Hamed, R., O’Meara, C., de la Varga, F., Kommala, J., Nicholson, M., Farrell, D., Galvin, M., Heverin, M., Mac Domhnaill, É., McFarlane, R., Meldrum, D., Murray, D., Hardiman, O. (2024). Data and Process Harmonisation of Multi-National, Multi-Site Research Data. Stud Health Technol Inform. 316:1411-1412. PMID: 39176644 doi:10.3233/SHTI240675.

Presentations

Posters

34th International Symposium on ALS/MND: Motor Neuron Disease Association, Basel, Switzerland, Dec 7th, 2023.

PRECISION ALS: A Bespoke Framework for Cross National Prospective Data Collection and Analysis. 34th International Symposium on ALS/MND: Motor Neuron Disease Association.

Collection Application and Platform for a Rare Disease (Precision ALS). 34th International Symposium on ALS/MND: Motor Neuron Disease Association.

Biogen Q2: Analyzing ALS progression: Unveiling rates patterns and variability in the ALSFRS-R using retrospective data from the PRECISION ALS Consortium.

Biogen Q4: Real-world evidence for the effect of riluzole treatment on survival in patients with Amyotrophic Lateral Sclerosis: a retrospective analysis of PRECISION-ALS.

Biogen Q5: Respiratory function survival and NIV prevalence over time in ALS – a retrospective study from PRECISION ALS.

Biogen Q6: PRECISION-ALS: Examining the impact of Amyotrophic Lateral Sclerosis (ALS) on working status and caregiver assistance using population-based European databases.

Oral Presentations

Biogen Q3: Mapping the natural history of ALS: Time-to-event analysis of clinical milestones in the pan-European, population-based PRECISION-ALS cohort [Invited Oral Presentation]. 34th International Symposium on ALS/MND: Motor Neuron Disease Association, Basel, Switzerland, Dec 7th 2023.

Query builder for longitudinal multimodal data set for Precision ALS [Presentation opened to the public]. Bachelor’s thesis oral defense, Barcelona Faculty of Informatics (FIB), Polytechnic University of Catalonia (UPC). Bachelor’s thesis oral defense, Barcelona Faculty of Informatics (FIB), Polytechnic University of Catalonia (UPC), Barcelona, May 15th 2024.

Transitioning from Master to Digital Worksheet: Abstracting a Question Set for a Digital Data Collection Tool for ALS [Prototype Demonstration]. 19th International Conference on Design Science Research in Information Systems and Technology (DESRIST 2024), Trollhättan, Sweden, June 3rd-5th 2024.

Transforming Patient Care Through Clinical AI Implementation [Smart Health Summit – Panel Discussion]. Discussion on harmonisation challenges in Precision ALS. Croke Park Conference Centre, Dublin, September 10th 2024.

Harmonising multi-site, multi-type clinical research data: The Precision ALS experience [Workshop, STC Conference]. Collaboration across disciplines for the health of people, animals and ecosystems, Timisoara, Romania, November 27th-29th 2024.