Actively Recruiting
Discovery and Validation of Protein Structural Complexes in Circulating Biofluids as Novel Biomarkers for Early Diagnosis, Prognosis, and Therapeutic Management of Patients with Neurodegenerative Disorders
Led by Neuromed IRCCS · Updated on 2025-03-18
110
Participants Needed
1
Research Sites
13 weeks
Total Duration
On this page
Sponsors
N
Neuromed IRCCS
Lead Sponsor
U
Università del Piemonte Orientale AOU Maggiore della Carità - Novara
Collaborating Sponsor
AI-Summary
What this Trial Is About
Neurodegenerative disorders such as Parkinson's disease, Alzheimer's disease, Frontotemporal dementia, and Amyotrophic Lateral Sclerosis involve the buildup of misfolded proteins that affect nerve cell function and survival. Researchers are studying protein complexes in body fluids as potential biomarkers to help with early diagnosis, prognosis, and treatment management of these disorders. This observational study aims to collect clinical, genetic, and biofluid data from patients and healthy individuals to identify and validate these biomarkers. Participants will undergo genetic testing including whole genome and whole exome sequencing to analyze DNA for variants related to their specific condition. Samples of cerebrospinal fluid (CSF), plasma, serum, and blood cells will be collected for analysis. The study involves collaboration between two centers focusing on patient stratification, sample collection, bioinformatics, and biological validation using human brain tissue and neuron cultures derived from induced pluripotent stem cells. During the study, participants will be evaluated for motor and cognitive symptoms using clinical scales such as the Hoehn and Yahr score, MDS-UPDRS, MOCA, and others over two years. Researchers will analyze protein complexes in CSF and plasma and correlate findings with genetics and clinical data. The biological effects of identified protein complexes on neuron viability will also be assessed. Participant involvement includes clinical assessments, sample donations, and genetic testing, with ongoing monitoring throughout the study period.
CONDITIONS
Brief Title
Discovery and Validation of Protein Structural Complexes in Circulating Biofluids As Novel Biomarkers for Early Diagnosis, Prognosis and Therapeutic Management of Patients Affected by Neurodegenerative Disorders
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Adults aged 20 years and older
- Diagnosis of Parkinson's disease based on Gelb et al. 1999 criteria
- Diagnosis of probable Alzheimer's disease according to McKhann criteria (2011) supported by positive amyloid biomarkers
- Diagnosis of Amyotrophic Lateral Sclerosis according to revised El Escorial criteria (2015) with definite or probable diagnosis
- Diagnosis of Frontotemporal dementia according to Rascovsky criteria (2011) supported by negative amyloid biomarkers
- Ability to provide informed consent
You will not qualify if you...
- Pre-existing psychiatric conditions
- Diagnosis of other neurodegenerative neurological diseases such as multiple sclerosis, epilepsy, or neuromuscular diseases
- Diagnosis of dementia (for Parkinson's disease patients and controls)
- Depression (for controls)
- Prolonged use of anxiolytic, antidepressant, antipsychotic, sleep-inducing, or cognitive stimulant drugs
- Inability to provide informed consent (for Alzheimer's, FTD, ALS patients)
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 - Up to 2 years
Participants undergo genetic testing including whole genome and whole exome sequencing and clinical assessments to evaluate disease progression and classification.
Periodic visits for assessments and sample collection
Duration - Up to 2 years
Participants are monitored over time with clinical evaluations and biomarker analysis to identify protein complexes and correlate with disease features.
Follow-up visits for clinical and biomarker assessments over 2 years
Trial Site Locations
Total: 1 location
1
IRCCS INM Neuromed
Pozzilli, Italy, Italy, 86077
Actively Recruiting
Research Team
T
Teresa Esposito, 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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