Biomarker-driven Phenotypic Dissection of Amyotrophic Lateral Sclerosis
- Conditions
- Amyotrophic Lateral SclerosisMotor Neuron Disease
- Registration Number
- NCT06318598
- Lead Sponsor
- Istituto Auxologico Italiano
- 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
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 200
- diagnosis of ALS or other motor neuron disease
- residence near the study centers
- refusal to participate to the study
- unable/unwilling to perform follow-up visits
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method 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
genetic screening baseline (at diagnosis) no. of patients with ALS-associated mutations
- Secondary Outcome Measures
Name Time Method neuropsychological assessment baseline (at diagnosis), at 1 year no. of patients with increasing vs decreasing ECAS scores
clinical assessment baseline (at diagnosis), at 6 months, at 1 year no. of patients with increasing vs decreasing PUMNS/LMNS scores
Trial Locations
- Locations (3)
Ospedale San Raffaele
🇮🇹Milano, MI, Italy
Ospedale San Luca
🇮🇹Milano, MI, Italy
AOU Città della Salute e della Scienza
🇮🇹Torino, TO, Italy