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NCT Number: NCT07260981

Comprehensive Biomarker Profiling of the IFN-α Pathway in Amyotrophic Lateral Sclerosis Patient Biofluids

ALS is characterized by significant genetic, clinical, and biological heterogeneity. The heritability of ALS is approximately 50%, and variants in more than 200 genes have been associated with the disease. Clinical features are highly variable for most variants, likely due to interactions with other modifier genes and environmental factors. Mutations in groups of genes belonging to specific ALS pathomechanisms may be associated with distinct phenotypes, but better correlations with clinical and biomarker profiles are still needed. Clinically, patients show significant variability in disease onset and progression, as well as in motor and cognitive phenotypes. Several clinical, neurophysiological, neuropsychological, and neuroradiological measures have been developed to account for this variability, but neurochemical biomarkers may represent an ideal tool to identify homogeneous patient subgroups.

The most extensively studied neurochemical biomarkers in ALS are neurofilaments, which are released from degenerating motor neurons into biological fluids and have diagnostic and prognostic value. Other potential biomarkers of neuronal damage in ALS include tau (associated with shorter survival), UCHL1, and TDP-43 (both elevated in ALS patients). Microglial and astrocytic involvement in ALS pathogenesis can be investigated by measuring MCP-1 and GFAP, respectively.

Considering the growing evidence implicating IFN-alpha involvement in ALS pathogenesis, we aim to comprehensively profile cytokines, neuroinflammatory markers, and analytes related to neurodegeneration in the plasma and cerebrospinal fluid (CSF) of clinically characterized ALS patients and matched healthy controls.

This study will support the validation of IFN-alpha pathway activation as a therapeutic target and explore its association with disease phenotype and progression. Furthermore, correlations between biomarker levels and available clinical data will provide insights into potential diagnostic and prognostic biomarkers for ALS, thereby facilitating future therapeutic development.

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Key information

Conditions

ALS - Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis Central Nervous System Diseases Metabolic Diseases Motor Neuron Disease Nervous System Diseases Neurodegenerative Diseases Neuromuscular Diseases Nutritional and Metabolic Diseases Proteostasis Deficiencies Spinal Cord Diseases TDP-43 Proteinopathies

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Pioneer Life Sciences Cherrywood

Dublin, Ireland

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

for ALS patients:

  • Age equal or over 18 years old
  • ALS patients, diagnosed accordingly to the revised El Escorial Criteria Disease duration <24 months from symptom onset.

Inclusion criteria

for controls

  • Age equal or over 18 years old
  • Subjects without a diagnosis of neurodegenerative disease or neuromuscular disorder.

Exclusion criteria

for ALS patients:

  • FVC <60%;
  • nutritional or respiratory failure; Significant hepatic or chronic renal failure or any intervening infective (pneumonia, flu-like syndromes, urinary tract infections) or metabolic (acute renal failure, hyperosmolar hyperglycaemic state, severe hyponatremia) conditions present at the time of assessment that could potentially affect biomarker levels.
  • ALS patients exhibiting any of these conditions at the time of biofluid sampling as per the Case Report From (CRF) will be excluded from sample selection.

Exclusion criteria

for controls:

  • Significant hepatic or chronic renal failure or any intervening infective (pneumonia, flu-like syndromes, urinary tract infections) or metabolic (acute renal failure, hyperosmolar hyperglycaemic state, severe hyponatremia) conditions present at the time of assessment that could potentially affect biomarker levels.
  • Controls exhibiting any of these conditions at the time of biofluid sampling as per the Case Report From (CRF) will be excluded from sample selection.

Treatment and study plan

Primary outcomes

  1. Profiling of neurodegenerative and inflammatory markers in in ALS plasma and CSF

    Time frame: As it is a retrospective study and only biomarker analyses will take place, we plan to start the analysis in October and conclude it in December 2025.

    Ulysses Neuroscience Ltd. will perform electrochemiluminescence sandwich ELISA using the Meso-Scale Discovery platform (MESO QuickPlex SQ 120 instrument and analyzed by Discovery Workbench 4.0 software). Data will be analysed as ALS vs healthy control as raw values of each analyte in the samples (pg/mL) and graphed using GraphPad Prism v.9.

    Specific analytes to be measured include:

    IFN-α2a, IFN-β, IL-12/IL-23p40, CXCL10/IP10, CCL2/MCP1, IFN-γ, IL-6, IL-8, IL-13, TNF-α, CCL5/RANTES, TDP-43, GFAP, Neurofilament L, Tau [Total], pTau T181, pTau T217, pTau T231

Sponsors and collaborators

Lead sponsor

Ulysses Neuroscience LTD

Other

Registry information

Important dates

Study start
2023
Primary completion
2025
Study completion
2025
First posted
Dec 3, 2025
Registry last updated
Dec 3, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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