Multiomics Approach in Adult Patients With Phenylketonuria
ConditionPhenylketonuria (PKU)
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age18+
SponsorUniversity Hospital, Tours
The GENOPHEN study aims to explore the links between the genome, metabolomic profile, and clinical phenotype in adults with early-treated PKU.
PKU patients over the age of 18,
diagnosed through the newborn screening program,
patients who participated in the final visit of the ECOPHEN study,
affiliation with a health insurance plan,
Patients whose PKU diagnosis was not detected during neonatal screening,
Patients who have not signed a dated informed consent form,
Patients who are unable to provide a saliva sample.