Breakthrough in ALS Diagnosis:โ Combined Blood Test Significantly โคImproves Accuracy & predicts Disease โคprogression
Bonn, Germany – A โnew study publishedโ in annals of Neurology reveals a significant advancement in the โฃdiagnosis and prognosis ofโข amyotrophic Lateral Sclerosis (ALS), โdemonstrating that aโฃ combination of twoโฃ readily available blood โbiomarkers – serumโค Neurofilament Light chain (sNfL) and cardiac โฃTroponin โฃT (cTnT) -โ dramatically improves diagnosticโฃ accuracy and offers insights into disease progression. Researchers from Universityโ Hospital Bonn โ(UKB)โ and collaborating institutions have identified an ALS-specificโ threshold for cTnT, well belowโ standard cardiac levels, further enhancing โthe test’s sensitivity.
Currently, diagnosing โALS can be challenging due toโ overlap with other โneurodegenerative diseases. While sNfL is known to indicate neuroaxonal damage, it isn’t exclusive to ALS. Surprisingly, cTnT,โ traditionally a cardiac biomarker, is also elevated in ALS โฃpatientsโค despite the absence of heart problems, โฃlinked to muscle-specificโ changes. This study evaluated the powerโฃ of using both markers together.
The research team retrospectively analyzed data from 293 ALS patients, comparingโ them to 85 individuals โขwithโ other neurodegenerative โคconditions and 29 healthy controls. โtheseโ findings were then validated using an autonomous cohort of โ501 ALS patients. Analysis using ROC โขcurve methodology confirmed that the combined biomarker โapproach significantly improves differentiation โbetween ALS and other diseases – a โคcritical step towards earlier and more accurate diagnosis.
Importantly, theโฃ study pinpointed an ALS-specific cTnT threshold of 8.35 ng/L, considerably โlower than the โข14 ng/L cutoff used โขin cardiology. Utilizing this adjusted โขthreshold increased the sensitivity of ALS diagnosis, allowing for theโค correct identification of more affected patients.
Beyond diagnosis,โ the biomarker combination also proved to be a powerful prognostic tool. Patients with “biomarker-negative” results exhibited significantly slower disease progression, with a median disease duration of 73 โmonths, compared to 18 months forโ “biomarker-positive” patients. โฃDisease progression โฃitself was also demonstrably slower in โฃtheโ biomarker-negative group.
“Our results demonstrate that combining sNfL โขand cTnT โฃimproves diagnostic accuracy in ALS and also provides valuable insights into disease progression,”โค stated PD Dr. Patrick Weydt, Head of the ALS and Other Motor Neuron Disease Clinicโ at UKB and researcherโ at theโฃ University of Bonn.
Dr.Torsten Grehl, โขfrom the Center for ALS and Other Motor Neuron Diseases at Alfried Krupp Hospital Essen, emphasized theโ practical implications: “In โฃeveryday clinical โpractice, it โคisโ indeed crucial to reliably differentiate ALS from other neurological diseases at an early โstage.The combination of sNfL andโข cTnTโฃ offers aโฃ real diagnostic advantage – using established, routine laboratory methods.”
The researchers believeโค this โdual biomarker strategy holds the potential to revolutionize ALS care, โขenablingโ earlier, moreโข reliable diagnoses and identifying โpatient subgroups with differing โprognoses, ultimately โpaving the โwayโข for personalized diagnostics and targeted therapies.
The study involved collaboration between โฃUKB, the University of Bonn, the German Center for Neurodegenerative Diseases (DZNE), Alfried Krupp Hospital Essen, Charitรฉ – Universitรคtsmedizin Berlin, and Soziotechnologie APSTโ GmbH โinโค Berlin.
Source: University Hospital of Bonn (UKB)
Journal Reference: Lindenborn, P., et al. (2025). โCombination of Serum โฃNeurofilament Light Chainโฃ and โฃSerum โคCardiac โฃTroponin T โคas Biomarkers Improves Diagnostic Accuracy โขin Amyotrophic Lateral Sclerosis.Annals ofโ Neurology. doi.org/10.1002/ana.78066