Relationships Between the Genome and Metabolomic and Phenomic Signatures in Adult Patients With Early-Treated Phenylketonuria: a Multicenter Cross-sectional Study

What this Trial Is About

Researchers are exploring how genetic differences and metabolic profiles relate to symptoms in adults with early-treated phenylketonuria (PKU). This study aims to understand why PKU symptoms vary widely, even among siblings, by studying genetic variants and metabolite patterns. The research focuses on adults diagnosed through newborn screening and followed in the ECOPHEN cohort, with the goal of improving personalized care and treatment options for PKU. The study involves collecting saliva samples from about 150 adult PKU patients for whole-genome sequencing to identify genetic variants, including DNAJC12, HULC, SLC7A5, SHANK family genes, and others. Metabolomic analysis using LC-MS/MS will be performed on blood samples to detect metabolic profiles. These genetic and metabolic data will be compared with clinical and neuropsychological assessments to find links between genes, metabolites, and disease severity. Participants will provide DNA and blood samples and undergo evaluations including neuropsychological tests and bone density measurements. Researchers will track neurological complications, intelligence scores, memory, depression, weight changes, and bone health. The study is observational, with data collected at enrollment. Participation will help identify biomarkers and genetic factors influencing PKU outcomes in adults, guiding future personalized treatments.

Multiomics Approach in Adult Patients With Phenylketonuria