Studies biomarkers and disease type in people with ALS over time
Follows adults with ALS, a nerve disease, using spinal fluid and blood markers.
Plain-language title generated from the registry record
Registry title: LONgitudinal and Integrated Evaluation of Biomarkers in reLation to phenotYpe in ALS
Key facts
- Where
- Milan, ItalySee the site
Where in Italy
- Istituto Auxologico Italiano IRCCSMilan, ItalyTaking people
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?
Trial details
- Who runs it
- Istituto Auxologico Italiano
- Trial code
- NCT07312240
- Record updated
- 31 December 2025
- Original description
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
LONgitudinal and Integrated Evaluation of Biomarkers in reLation to phenotYpe in ALS
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.
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.
Inclusion: 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.
Exclusion: recent traumatic, inflammatory, vascular, or neoplastic Central Nervous System disease; contraindications to LP; severe medical comorbidities.