Early changes of neuromuscular transmission in the SOD1(G93A) mice model of ALS start long before motor symptoms onset.
Mariana C Rocha, Paula A Pousinha, Alexandra M Correia...
https://pubmed.ncbi.nlm.nih.gov/24040091Actively Recruiting
Age: 18Years +
All Genders
Healthy Volunteers
ID07268833
Translating Single-cell Vulnerability Into Novel ALS Biomarkers and Therapeutic Targets: Towards a Liquid Nerve Biopsy
Led by Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta · Updated on 2025-12-08
400
Participants Needed
4
Research Sites
N/A
Total Duration
On this page
Sponsors
F
Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
Lead Sponsor
A
Azienda Ospedaliero Universitaria di Cagliari
Collaborating Sponsor
AI-Summary
What this Trial Is About
Researchers are investigating amyotrophic lateral sclerosis (ALS), a severe neurodegenerative disease characterized by motor neuron degeneration and no current cure. This study aims to discover new, reliable biomarkers and understand ALS mechanisms by analyzing changes in peripheral nerve tissue. The research focuses on early pathological events in ALS, including damage to motor axons and neuromuscular connections, using a novel "PNS perspective" to reveal cell-specific molecular alterations in nerve tissue during disease progression. The study involves analyzing human nerve biopsies from living ALS patients collected during diagnostic procedures, combined with data from preclinical mouse models. This approach will help identify protein biomarkers linked to early disease stages. The researchers will study various cell types within peripheral nerves, such as Schwann cells and macrophages, to understand their role in ALS pathology. Skin biopsies will be used to detect deregulated nerve signatures, and candidate molecular targets will be screened in biofluids from ALS patients and individuals at genetic risk. Participants include ALS patients, neuropathy patients, presymptomatic individuals, healthy controls, and patients with other neurodegenerative diseases. The study measures diagnostic biomarkers over 20 months and evaluates prognostic biomarkers and therapeutic targets over 24 months. Participants will undergo clinical assessments, biopsies, and biofluid sampling. This observational study is conducted under medical supervision to improve ALS diagnosis and treatment development by uncovering early disease markers and mechanisms.
CONDITIONS
Brief Title
Translating Single-cell Vulnerability Into Novel ALS Biomarkers and Therapeutic Targets: Towards a Liquid Nerve Biopsy
Who Can Participate
Age: 18Years +
All Genders
Healthy Volunteers
Eligibility Criteria
You may qualify if you...
- Age equal or over 18 years old
- ALS patients diagnosed according to the revised El Escorial Criteria
- Disease duration less than 24 months from symptom onset
- Patients with genetically defined susceptibility to ALS with affected relatives
- Subjects without neurodegenerative or neuromuscular disorders (controls)
- Patients diagnosed with Alzheimer's, frontotemporal dementia, Parkinson's disease, or dementia with Lewy bodies according to accepted criteria
- Patients with axonal or demyelinating neuropathy
You will not qualify if you...
- Forced vital capacity less than 60%
- Nutritional or respiratory failure
- Significant hepatic or chronic renal failure
- Infective or metabolic conditions potentially influencing biomarker levels
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
1
2
3
Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Diagnostic Evaluation
Duration - Up to 20 months
Participants undergo assessments to identify ALS biomarkers through minimally invasive skin biopsies and biofluid screening.
Periodic visits depending on cohort assignment
Long-term Monitoring
Duration - Up to 24 months
Participants are observed to track prognostic biomarkers and potential therapeutic targets over time.
Periodic visits depending on cohort assignment
Trial Site Locations
Total: 4 locations
1
Azienda Ospedaliero Universitaria di Cagliari
Monserrato, California, Italy, 09042
Actively Recruiting
2
Fondazione IRCCS Istituto Neurologico Carlo Besta
Milan, Italy
Actively Recruiting
3
IRCCS Ospedale San Raffaele SRL
Milan, Italy
Actively Recruiting
4
Azienda Ospedaliera Universitaria Federico II
Naples, Italy, 80131
Actively Recruiting
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How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
5
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Published Research Related To This Trial
Motor nerve biopsy: clinical usefulness and histopathological criteria.
Nilo Riva, Sandro Iannaccone, Massimo Corbo...
https://pubmed.ncbi.nlm.nih.gov/21280090Phosphorylated TDP-43 aggregates in peripheral motor nerves of patients with amyotrophic lateral sclerosis.
Nilo Riva, Francesco Gentile, Federica Cerri...
https://pubmed.ncbi.nlm.nih.gov/35076694Unraveling gene expression profiles in peripheral motor nerve from amyotrophic lateral sclerosis patients: insights into pathogenesis.
Nilo Riva, Ferdinando Clarelli, Teuta Domi...
https://pubmed.ncbi.nlm.nih.gov/27982123Non-motor involvement in amyotrophic lateral sclerosis: new insight from nerve and vessel analysis in skin biopsy.
M Nolano, V Provitera, F Manganelli...
https://pubmed.ncbi.nlm.nih.gov/27288647The Peripheral Nervous System in Amyotrophic Lateral Sclerosis: Opportunities for Translational Research.
Francesco Gentile, Stefania Scarlino, Yuri Matteo Falzone...
https://pubmed.ncbi.nlm.nih.gov/31293369Amyotrophic lateral sclerosis is a distal axonopathy: evidence in mice and man.
Lindsey R Fischer, Deborah G Culver, Philip Tennant...
https://pubmed.ncbi.nlm.nih.gov/14736504Quantification of serum TDP-43 and neurofilament light chain in patients with amyotrophic lateral sclerosis stratified by UNC13A genotype.
Valeria Casiraghi, Ilaria Milone, Alberto Brusati...
https://pubmed.ncbi.nlm.nih.gov/39241471Combination of serum and CSF neurofilament-light and neuroinflammatory biomarkers to evaluate ALS.
Alexandre Brodovitch, José Boucraut, Emilien Delmont...
https://pubmed.ncbi.nlm.nih.gov/33436881Structured wound angiogenesis instructs mesenchymal barrier compartments in the regenerating nerve.
Ganesh Parameshwar Bhat, Aurora Maurizio, Alessia Motta...
https://pubmed.ncbi.nlm.nih.gov/37972594