Amyotrophic Lateral Sclerosis, Motor Neuron Disease
Conditions
Brief 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
Interventions
None listed
Sponsors
A.O.U. Città della Salute e della Scienza
Ospedale San Raffaele
Istituto Auxologico Italiano
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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
| Measure | Time frame | Description |
|---|---|---|
| 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 |
Countries
Italy
Contacts
Primary ContactNicola Ticozzi, MD, PhD
Outcome results
None listed