Breakthrough in ALS Diagnosis: Combined Blood Test Significantly Improves Accuracy & predicts Disease progression
Bonn, Germany – A new study published in annals of Neurology reveals a significant advancement in the diagnosis and prognosis of amyotrophic Lateral Sclerosis (ALS), demonstrating that a combination of two readily available blood biomarkers – serum Neurofilament Light chain (sNfL) and cardiac Troponin T (cTnT) - dramatically improves diagnostic accuracy and offers insights into disease progression. Researchers from University Hospital Bonn (UKB) and collaborating institutions have identified an ALS-specific threshold for cTnT, well below standard cardiac levels, further enhancing the test’s sensitivity.
Currently, diagnosing ALS can be challenging due to overlap with other neurodegenerative diseases. While sNfL is known to indicate neuroaxonal damage, it isn’t exclusive to ALS. Surprisingly, cTnT, traditionally a cardiac biomarker, is also elevated in ALS patients despite the absence of heart problems, linked to muscle-specific changes. This study evaluated the power of using both markers together.
The research team retrospectively analyzed data from 293 ALS patients, comparing them to 85 individuals with other neurodegenerative conditions and 29 healthy controls. these findings were then validated using an autonomous cohort of 501 ALS patients. Analysis using ROC curve methodology confirmed that the combined biomarker approach significantly improves differentiation between ALS and other diseases – a critical step towards earlier and more accurate diagnosis.
Importantly, the study pinpointed an ALS-specific cTnT threshold of 8.35 ng/L, considerably lower than the 14 ng/L cutoff used in cardiology. Utilizing this adjusted threshold increased the sensitivity of ALS diagnosis, allowing for the correct identification of more affected patients.
Beyond diagnosis, 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 months, compared to 18 months for “biomarker-positive” patients. Disease progression itself was also demonstrably slower in the biomarker-negative group.
“Our results demonstrate that combining sNfL and cTnT improves diagnostic accuracy in ALS and also provides valuable insights into disease progression,” stated PD Dr. Patrick Weydt, Head of the ALS and Other Motor Neuron Disease Clinic at UKB and researcher at the University of Bonn.
Dr.Torsten Grehl, from the Center for ALS and Other Motor Neuron Diseases at Alfried Krupp Hospital Essen, emphasized the practical implications: “In everyday clinical practice, it is indeed crucial to reliably differentiate ALS from other neurological diseases at an early stage.The combination of sNfL and cTnT offers a real diagnostic advantage – using established, routine laboratory methods.”
The researchers believe this dual biomarker strategy holds the potential to revolutionize ALS care, enabling earlier, more reliable diagnoses and identifying patient subgroups with differing prognoses, ultimately paving the way for personalized diagnostics and targeted therapies.
The study involved collaboration between UKB, the University of Bonn, the German Center for Neurodegenerative Diseases (DZNE), Alfried Krupp Hospital Essen, Charité – Universitätsmedizin Berlin, and Soziotechnologie APST GmbH in Berlin.
Source: University Hospital of Bonn (UKB)
Journal Reference: Lindenborn, P., et al. (2025). Combination of Serum Neurofilament Light Chain and Serum Cardiac Troponin T as Biomarkers Improves Diagnostic Accuracy in Amyotrophic Lateral Sclerosis.Annals of Neurology. doi.org/10.1002/ana.78066
