Biomarker-driven Phenotypic Dissection of Amyotrophic Lateral Sclerosis
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Amyotrophic Lateral Sclerosis, Motor Neuron Disease. Basic parameters: from 18 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Italy
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Official title
Dissezione Fenotipica Guidata da Biomarcatori Della Sclerosi Laterale Amiotrofica/Biomarker-driven Phenotypic Dissection of Amyotrophic Lateral Sclerosis
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
Primary outcome measures
- genetic screening [Time frame: baseline (at diagnosis)]
- biomarker assessment [Time frame: baseline (at diagnosis), at 6 months, at 1 year]
Secondary outcome measures (2)
- clinical assessment [Time frame: baseline (at diagnosis), at 6 months, at 1 year]
- neuropsychological assessment [Time frame: baseline (at diagnosis), at 1 year]
Eligibility criteria
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
Italy · 3 centers
- Ospedale San Raffaele — Milan
- Ospedale San Luca — Milan
- AOU Città della Salute e della Scienza — Torino
Identifiers
NCT: NCT06318598 · 23M202