Actively Recruiting

Age: 18Years +
All Genders
ID06318598

Biomarker-driven Phenotypic Dissection of Amyotrophic Lateral Sclerosis

Led by Istituto Auxologico Italiano · Updated on 2025-05-07

200

Participants Needed

3

Research Sites

N/A

Total Duration

On this page

Sponsors

I

Istituto Auxologico Italiano

Lead Sponsor

A

A.O.U. Città della Salute e della Scienza

Collaborating Sponsor

AI-Summary

What this Trial Is About

This observational study focuses on understanding the differences in symptoms and genetics among people with Amyotrophic Lateral Sclerosis (ALS) and other motor neuron diseases. Researchers aim to identify sets of biomarkers that explain how genetic factors relate to symptoms and to categorize patients into more similar groups based on these markers. The study is sponsored by Istituto Auxologico Italiano and seeks to improve knowledge about ALS variability through detailed biomarker analysis. Participants will undergo several evaluations, including neurological, neurophysiological, and neuropsychological tests. Genetic testing through whole exome sequencing will be performed, along with biomarker measurements in cerebrospinal fluid (CSF) and plasma. These assessments will take place at diagnosis, 6 months, and 1 year to track changes over time. During the study, participants will have clinical and neuropsychological assessments at baseline and follow-up points. The main outcomes measured are genetic screening and biomarker levels at diagnosis, 6 months, and 1 year. The study involves no treatment interventions but focuses on collecting detailed data to understand ALS better. Participation requires attending follow-up visits over one year to complete evaluations and provide samples.

CONDITIONS

Brief Title

Biomarker-driven Phenotypic Dissection of Amyotrophic Lateral Sclerosis

Who Can Participate

Age: 18Years +
All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • Diagnosis of ALS or other motor neuron disease
  • Residence near the study centers
Not Eligible

You will not qualify if you...

  • Refusal to participate in the study
  • Unable or unwilling to attend follow-up visits

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

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Your Study Journey

Screening

Duration - 2 to 4 weeks

Participants are screened for eligibility to participate in the trial.

Diagnostic Evaluation

Duration - At diagnosis

Participants undergo genetic screening and baseline biomarker assessments at diagnosis.

1 visit (in-person)

Long-term Monitoring

Duration - 1 year

Participants are monitored with biomarker, clinical, and neuropsychological assessments over one year after diagnosis.

Visits at 6 months and 1 year

Trial Site Locations

Total: 3 locations

1

Ospedale San Raffaele

Milan, MI, Italy, 20132

Actively Recruiting

2

Ospedale San Luca

Milan, MI, Italy, 20149

Actively Recruiting

3

AOU Città della Salute e della Scienza

Torino, TO, Italy, 10126

Actively Recruiting

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Research Team

N

Nicola Ticozzi, MD, PhD

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

0

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Frequently Asked Questions

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