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Tzeplaeff, L.* ; Galhoz, A. ; Meijs, C. ; Caldi Gomes, L.* ; Kovac, A.* ; Menzel, A.* ; Değirmenci, H.* ; Alaamel, A.* ; Kaya, H.C.* ; Çelik, A.G.* ; Dinçer, S.* ; Korucuk, M.* ; Karaüzüm, S.B.* ; Bayraktar, E.* ; Çiftçi, V.* ; Bilge, U.* ; Koc, F.* ; Demleitner, A.F.* ; Buchberger, A.M.S.* ; von Heynitz, R.* ; Gmeiner, V.* ; Knellwolf, C.* ; Mouzouri, M.* ; Wuu, J.* ; Basak, A.N.* ; Andersen, P.M.* ; Kohlmayer, F.* ; Ashton, N.J.* ; Kuban, W.* ; Lenz, C.* ; Rogers, M.L.* ; Zilka, N.* ; Corcia, P.* ; Lerner, Y.* ; Weber, M.* ; Turčanova Koprušakova, M.* ; Uysal, H.* ; Benatar, M.* ; Menden, M.P. ; Lingor, P.*

Identification of a presymptomatic and early disease signature for amyotrophic lateral sclerosis (ALS): Protocol of the premodiALS study.

Neurol. Res. Pract. 7:56 (2025)
Publ. Version/Full Text Research data DOI PMC
Open Access Gold
Creative Commons Lizenzvertrag
INTRODUCTION: The median time to diagnosis of amyotrophic lateral sclerosis (ALS) is approximately 12 months after the onset of first symptoms. This diagnostic delay is primarily due to the nonspecific nature of early symptoms and the clinical challenges in differentiating ALS from its mimics. Therefore, the discovery of reliable biomarkers for the early and accurate diagnosis of ALS represents a critical medical need. METHODS: A total of 330 participants will be recruited across six international study sites. The cohort will include (1) pre-symptomatic gene mutation carriers, (2) symptomatic individuals up to 12 months after symptom onset with either ALS, ALS mimics, or a pure motor syndrome with yet unclear assignment, and (3) healthy controls. Participants will engage in a one-year longitudinal study, consisting of an initial evaluation at baseline visit and a follow-up visit 12 months later. Assessments will include an environmental and medical history questionnaire, neurological examinations, olfactory testing, cognitive/behavioral evaluations, and the collection of biological samples (serum, plasma, urine, tear fluid, and cerebrospinal fluid). Proteomic, metabolomic, and lipidomic analyses will be performed using mass spectrometry and targeted immunoassays, with all samples processed under standardized protocols. The resulting multimodal dataset will be systematically integrated in an effort to uncover a presymptomatic and early ALS signature. Perspective The premodiALS study aim to identify a clinico-molecular signature characteristic of presymptomatic and early ALS. These findings may have relevance to early diagnosis and future clinical practice for ALS disease.
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Publication type Article: Journal article
Document type Scientific Article
Keywords Biomarkers ; Early Diagnosis ; Motoneuron Disease ; Multi-omic ; Observational Study ; Pre-symptomatic
Language english
Publication Year 2025
HGF-reported in Year 2025
ISSN (print) / ISBN 2524-3489
e-ISSN 2524-3489
Journal Neurological Research and Practice
Quellenangaben Volume: 7, Issue: 1, Pages: , Article Number: 56 Supplement: ,
Publisher BMC
Publishing Place Campus, 4 Crinan St, London, N1 9xw, England
Reviewing status Peer reviewed
Institute(s) Institute of Computational Biology (ICB)
POF-Topic(s) 30205 - Bioengineering and Digital Health
Research field(s) Enabling and Novel Technologies
PSP Element(s) G-554700-001
Grants rac Foundation
EU Joint Programme- Neurodegenerative Disease Research (JPND)
Bun- desministerium fur Bildung und Forschung (BMBF)
Deutsche Forschungsgemeinschaft (DFG, German Research Foundation)
European Union
Scientific and Technological Research Council of Turkey (TUBITAK)
Swiss National Science Foundation (SNSF)
French National Research Agency (ANR)
Polish National Science Center (NCN)
Ministry of Health of Israel
Ministry of Education, Science, Research and Sport of the Slovak Republic
Swedish Research Council (SRC)
U.S. National Institutes of Health (NIH)
ALS Recovery Fund
Kimmelman Estate
Suna and Inan Kimath
Projekt DEAL
DOI 10.1186/s42466-025-00417-9
WOS ID 001552742700001
Scopus ID 105013765596
PubMed ID 40830802
Erfassungsdatum 2025-11-11
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