Actively Recruiting
Towards a Personalized Medicine in Amyotrophic Lateral Sclerosis (ALS) by a Patient-tailored Genetic/Biomarker/iPSC Combined Approach - PERMEALS
Led by A.O.U. Città della Salute e della Scienza · Updated on 2025-04-09
200
Participants Needed
4
Research Sites
26 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Amyotrophic Lateral Sclerosis (ALS) is a serious neurodegenerative disease affecting motor neurons, with significant impact on patients and healthcare systems. This research aims to better understand ALS by studying its clinical, genetic, biochemical, and neuroimaging features. Researchers plan to explore the disease's variability and identify different patient subtypes using advanced artificial intelligence (AI) methods, helping to move toward personalized treatment approaches. The study involves recruiting 200 ALS patients diagnosed by established criteria and classifying them by motor phenotype and cognitive function. Researchers will collect genetic information through next-generation sequencing and analyze brain structure and function using MRI and PET scans. Biomarkers in blood and cerebrospinal fluid will be measured at multiple timepoints to track disease progression. Additionally, patient cells will be reprogrammed into induced pluripotent stem cells (iPSC) to model ALS in the laboratory and study genetic variants. Participants will be evaluated at baseline and followed up every three months with assessments of muscle strength, functional status, and disease staging. Imaging and biomarker measurements will be repeated at 6 and 12 months. The study will use AI to integrate diverse data types to better categorize ALS subtypes and predict progression. Overall, the study lasts at least 12 months and combines clinical, genetic, imaging, biomarker, and laboratory modeling to advance knowledge of ALS.
CONDITIONS
Brief Title
A Patient-tailored Genetic/Biomarker/iPSC Combined Approach in ALS - PERMEALS
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Diagnosis of ALS
- Age 18 years or older
You will not qualify if you...
- ALS patients under 18 years old
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Baseline visit and up to 2 weeks for imaging
Participants undergo baseline clinical and cognitive assessments, genetic testing, lumbar puncture for biomarker analysis, MRI and FDG-PET imaging to characterize ALS phenotype and disease features.
1 baseline visit and 1 MRI session within 2 weeks; 1 FDG-PET at baseline; lumbar puncture at baseline in selected participants
Duration - 12 months
Participants are followed every three months to monitor muscle strength, functional status, and disease staging. Biomarker levels in plasma are measured at baseline, 6, and 12 months, with repeat MRI assessments at 6 and 12 months.
Quarterly visits every 3 months for clinical assessments; biomarker sampling at baseline, 6, and 12 months; MRI scans at 6 and 12 months
Trial Site Locations
Total: 4 locations
1
IRCCS Istituto Auxologico Italiano
Milan, Italy, 20149
Actively Recruiting
2
Istituto di Ricerche Farmacologiche Mario Negri IRCCS
Milan, Italy, 20156
Actively Recruiting
3
Università degli Studi della Campania "Luigi Vanvitelli"
Naples, Italy, 80138
Actively Recruiting
4
AOU Citta della Salute e della Scienza di Torino
Torino, Italy, 10126
Actively Recruiting
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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