Biomarker-driven Phenotypic Dissection of Amyotrophic Lateral Sclerosis

NCT06318598 — Recruiting, 200 participants, Istituto Auxologico Italiano

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Dissezione Fenotipica Guidata da Biomarcatori Della Sclerosi Laterale Amiotrofica/Biomarker-driven Phenotypic Dissection of Amyotrophic Lateral Sclerosis

Registry	NCT06318598, acronym DRIVEALS
Status	Recruiting
Study type	Observational
Enrollment	200 (Estimated)
Sponsor	Istituto Auxologico Italiano (Other); collaborators: A.O.U. Città della Salute e della Scienza, Ospedale San Raffaele
Conditions	Amyotrophic Lateral Sclerosis, Motor Neuron Disease
Dates	start 2023-04-11, primary completion 2026-04-10 (estimated), completion 2026-04-10 (estimated), first posted 2024-03-19, last updated 2025-05-07
Locations	3 sites in Italy

-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

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+Outcome measures

Primary outcomes

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

Secondary outcomes

clinical assessment [baseline (at diagnosis), at 6 months, at 1 year]: no. of patients with increasing vs decreasing PUMNS/LMNS scores
neuropsychological assessment [baseline (at diagnosis), at 1 year]: no. of patients with increasing vs decreasing ECAS scores

+Eligibility

Sex: All, ages: 18 Years to any

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

+Locations (3)

Facility	City	Country	Status
Ospedale San Raffaele	Milan, MI	Italy	Recruiting
Ospedale San Luca	Milan, MI	Italy	Recruiting
AOU Città della Salute e della Scienza	Torino, TO	Italy	Recruiting