Biomarker-driven Phenotypic Dissection of Amyotrophic Lateral Sclerosis

Condition(s) studied

Study summary

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

Primary outcome measure(s)

• genetic screening — baseline (at diagnosis)
  no. of patients with ALS-associated mutations
• biomarker assessment — baseline (at diagnosis), at 6 months, at 1 year
  no. of patients with abnormal NfL, GFAP, tau, UCHL1, MCP1 and TDP-43 levels

Trial sites (3)

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