Studies biomarkers and disease type in people with ALS over time
Follows adults with ALS, a nerve disease, using spinal fluid and blood markers.
Key facts
- Who runs it
- Istituto Auxologico Italiano
- Where
- Milan, ItalySee the site
- Trial code
- Registry title
- LONgitudinal and Integrated Evaluation of Biomarkers in reLation to phenotYpe in ALS
- Status
- Recruiting
- People taking part
- 140 people, planned
- Started
- 17 Apr 2025
- Expected to end
- 15 Dec 2027
- Type of study
- Interventional, 2 groups
- Treatments tested
- Lumbar Puncture for analysis of Cerebrospinal Fluid
- Deep Phenotyping
- Routine blood chemistry analysis and genetic analysis
- Record updated
- 31 December 2025
Who can take part
AI summary
From the trial's eligibility criteria. Machine-read from the registry text on this page, so it can be wrong. The registry text below and the trial team decide who can take part.
The trial is looking for adults with amyotrophic lateral sclerosis (ALS) who can have a lumbar puncture. It also takes adult controls who have a lumbar puncture for neurological symptoms but show no sign of nervous system disease.
- Age
- 18 years or older
- Sex
- All sexes can join.
- Disease stage
- A diagnosis of amyotrophic lateral sclerosis (ALS). No particular stage is named.
Main reasons for not taking part
- Severe medical comorbidities (ALS patients)
- Recent traumatic, inflammatory, vascular or neoplastic disease of the central nervous system (ALS patients)
- Contraindications to lumbar puncture (ALS patients)
The registry criteria, word for word
Show all 10 criteriaShow less
Who can take part
- diagnosis of Amyotrophic Lateral Sclerosis (ALS)
- age ≥18 y
- feasibility of lumbar puncture (LP)
- informed consent
- age ≥18 y
- individuals undergoing LP for neurological symptoms
- no evidence of nervous system pathology
- informed consent
Who cannot take part
- recent traumatic, inflammatory, vascular, or neoplastic Central Nervous System disease; contraindications to LP
- severe medical comorbidities
Where in Italy
- Istituto Auxologico Italiano IRCCSMilan, ItalyContact: Federico Verde, MDTaking people
About the trial
What the trial wants to find out
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive degeneration of upper and lower motor neurons, leading to paralysis and death. Despite its uniformly fatal outcome, ALS shows marked clinical heterogeneity with respect to phenotype, progression rate, cognitive involvement, and survival. This heterogeneity limits prognostic accuracy and complicates patient stratification in both clinical practice and research settings.
Read full original descriptionShow less
Neurochemical biomarkers have emerged as promising tools to improve diagnosis, prognostication, and understanding of ALS pathophysiology. Among them, neurofilament light chain (NfL) represents the most established biomarker, reflecting axonal degeneration. Additional biomarkers, including glial fibrillary acidic protein (GFAP), phosphorylated tau (p-tau181), and Alzheimer's disease-related markers (Aβ42 and Aβ40), may provide complementary information regarding astroglial activation, motor neuron subtype involvement, and cognitive-behavioral features. However, the phenotypic correlates, longitudinal trajectories, and biological determinants of these biomarkers in ALS are not yet fully understood.
The LONELYALS study is an ongoing, monocentric, observational cohort study with a case-control component, designed to investigate the relationships between ALS phenotype and a comprehensive panel of cerebrospinal fluid (CSF) and blood biomarkers. The study will enroll 140 adult patients with ALS and collect longitudinal clinical, neuropsychological, biological, and laboratory data over a follow-up period of up to 36 months. By integrating biomarker measurements with detailed phenotypic characterization, the study aims to clarify biomarker origins, determinants, and prognostic value, and to identify novel CSF biomarkers relevant to ALS.
The 2 groups in the trial
- ALS PatientsOther group
Patients with Amyotrophic Lateral Sclerosis
Treatment: Lumbar Puncture for analysis of Cerebrospinal Fluid, Deep Phenotyping, and Routine blood chemistry analysis and genetic analysis
- ControlsOther group
Individuals undergoing Lumbar Puncture for neurological symptoms but finally having no evidence of nervous system pathology
Treatment: Lumbar Puncture for analysis of Cerebrospinal Fluid
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Contact the study team: see the registry record → Contacts and Locations
Print a page for my doctorData and sources
- Registry record
- Listed on ClinicalTrials.gov.
- Official title
- LONgitudinal and Integrated Evaluation of Biomarkers in reLation to phenotYpe in ALS
- Plain-language title
- Studies biomarkers and disease type in people with ALS over timeGenerated from the registry record. The registry title is the official one.
- AI summary
- From the trial's eligibility criteria. Read by machine on 13 November 2026.
- Record updated
- 31 December 2025