Metabolomic Screening Using Blood Spots and Urine to Improve Diagnosis of Rare Diseases and Autism Spectrum Disorders

What this Trial Is About

This research aims to create a large biobank of dried blood spots and urine samples from healthy individuals and patients with rare diseases, mainly hereditary metabolic disorders and autism spectrum disorders. The study will generate a metabolomic database using high-resolution mass spectrometry to identify and confirm specific biomarkers. The goal is to improve diagnosis, screening, and understanding of the biochemical mechanisms involved in these conditions. Participants will have dried blood spots and urine collected at multiple centers, then shipped to a central biobank for storage and analysis. The study includes three groups healthy controls, patients with confirmed diagnoses, and patients suspected of having rare diseases. Samples will be analyzed using liquid chromatography coupled to high-resolution mass spectrometry, generating detailed metabolomic data. Multiple samples may be collected over time from some participants. During the study, participants will provide informed consent and complete a medical questionnaire. Samples will be collected, stored at very low temperatures, and analyzed with quality controls. Researchers will review metabolomic profiles and may perform additional biochemical or genetic testing if unusual results arise. The main outcome is to uncover new biomarkers over four years. Participant information will be kept confidential following data protection laws, and the study will run until 2028.

Blood Spot and Urine Metabolomic Screening Applied to Rare Diseases