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Biomarker-driven Phenotypic Dissection of Amyotrophic Lateral Sclerosis

Biomarker-driven Phenotypic Dissection of Amyotrophic Lateral Sclerosis

Recruiting
18 years and older
All
Phase N/A

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Overview

The goal of this observational study is to understand the clinical variability in a population of ALS patients using multidimensional biomarkers. The main questions it aims to answer are:

  • Which set of biomarkers explain genotypic-phenotypic correlations in ALS?
  • Which set of biomarkers can be used to subdivide the ALS population in homogeneous subgroups?

Participants will undergo:

  • neurological evaluation
  • neurophysiological evaluation
  • neuropsychological evaluation
  • whole exome sequencing
  • biomarker measurement in CSF and plasma

Eligibility

Inclusion Criteria:

  • diagnosis of ALS or other motor neuron disease
  • residence near the study centers

Exclusion Criteria:

  • refusal to participate to the study
  • unable/unwilling to perform follow-up visits

Study details
    Amyotrophic Lateral Sclerosis
    Motor Neuron Disease

NCT06318598

Istituto Auxologico Italiano

16 October 2025

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