Study of Protein Complexes in Blood and Fluid Samples to Find Early Signs and Treatments for Neurodegenerative Diseases like Parkinsons, Alzheimers, Frontotemporal Dementia, and ALS

What this Trial Is About

Neurodegenerative disorders such as Parkinsons disease, Alzheimers 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.

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