LONgitudinal and Integrated Evaluation of Biomarkers in reLation to phenotYpe in ALS

Sponsor
Istituto Auxologico Italiano
Study ID
NCT07312240
Status
Recruiting
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Conditions

Eligibility Criteria

Sex
ALL
Age
18 Years - N/A
Healthy Volunteers
Accepted

Interventions

  • Lumbar Puncture for analysis of Cerebrospinal Fluid — DIAGNOSTIC_TEST
    Lumbar Puncture for analysis of Cerebrospinal Fluid for subsequent discovery and validation of a novel biomarker
  • Deep Phenotyping — DIAGNOSTIC_TEST
    Clinical, neurophysiological, neuroradiological, neuropsychological phenotyping and respiratory investigation
  • Routine blood chemistry analysis and genetic analysis — DIAGNOSTIC_TEST
    Plasma sampling and genetic analysis

Study Details

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.

Key Dates

First listed
Dec 31, 2025
Start date
Apr 17, 2025
Status verified
Dec 2025
Primary completion
Dec 15, 2027
Completion
Dec 15, 2027

Study Design

Enrollment
140 participants (estimated)
Allocation
NON_RANDOMIZED
Intervention model
PARALLEL
Primary purpose
DIAGNOSTIC

Arms

  • Other: ALS Patients
    Patients with Amyotrophic Lateral Sclerosis
  • Other: Controls
    Individuals undergoing Lumbar Puncture for neurological symptoms but finally having no evidence of nervous system pathology

Primary Outcome Measure

Clinical - ALSFRS-R score [ Time Frame: At enrolment, at 6 months, at 12 months ]

Central Contacts

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