Single-cell profiling of peripheral nerves to find blood and skin biomarkers and new targets for ALS

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

The project uses single-cell systems biology and histopathology on nerve tissue obtained during diagnostic nerve biopsies from living ALS patients and complementary preclinical mouse models. Investigators will map cell-type–specific molecular changes in peripheral nerves (motor axons, Schwann cells, endothelial cells, fibroblasts, macrophages) to identify early dysfunctional states. Candidate protein biomarkers will be selected from tissue signatures and screened and validated in patient biofluids and minimally invasive skin biopsies to create a 'liquid nerve biopsy' profile. The work aims to generate specific early-stage peripheral biomarkers and nominate molecular targets for future therapeutic development.

Why it matters

Who can join: the full rules

Inclusion Criteria for als patients:

* Age equal or over 18 years old
* ALS patients, diagnosed accordingly to the revised El Escorial Criteria
* Disease duration \<24 months from symptom onset.

Exclusion Criteria for als patients:

* FVC \<60%;
* nutritional or respiratory failure;
* significant hepatic or chronic renal failure or any interveninginfective or metabolic conditions potentially influencing CBs levels.

Inclusion criteria for ALS pre-symptomatic patients

* Age equal or over 18 years old
* Patients with genetic defined susceptibility to ALS and one or more strict relative affected from ALS Exclusion criteria for ALS pre-symptomatic patients
* significant hepatic or chronic renal failure or any interveninginfective or metabolic conditions potentially influencing CBs levels.

Inclusion criteria for controls

* Age equal or over 18 years old
* Subjects without a diagnosis of neurodegenerative disease or neuromuscular disorder.

Exclusion criteria for controls

• significant hepatic or chronic renal failure or any interveninginfective or metabolic conditions potentially influencing CBs levels.

Inclusion criteria for non ALS neurodegenerative patients

* Age equal or over 18 years old
* For AD: Diagnosis according to 2018 NIA-AA Framework for Alzheimer's Disease
* For FTD: Diagnosis according to 2011 International Behavioural Variant FTD Criteria Consortium
* For PD: Diagnosis according to 2015 Movement Disorder Society criteria
* For DLB: Diagnosis according to 2017 Fourth Consensus Report of the DLB Consortium Exclusion criteria for non ALS neurodegenerative patients
* significant hepatic or chronic renal failure or any interveninginfective or metabolic conditions potentially influencing CBs levels.

Inclusion criteria for neuromuscular disease patients

* Age equal or over 18 years old
* Presence of axonal or demyelinating neuropathy Exclusion criteria for neuromuscular patients
* significant hepatic or chronic renal failure or any interveninginfective or metabolic conditions potentially influencing CBs levels.

Where it's running

• Azienda Ospedaliero Universitaria di Cagliari
  Monserrato, California, Italy Recruiting
• Fondazione IRCCS Istituto Neurologico Carlo Besta
  Milan, Italy Recruiting
• IRCCS Ospedale San Raffaele SRL
  Milan, Italy Recruiting
• Azienda Ospedaliera Universitaria Federico II
  Naples, Italy Recruiting

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.