Multiomics Approach in Adult Patients With Phenylketonuria

Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age18+
SponsorUniversity Hospital, Tours

About this trial

The GENOPHEN study aims to explore the links between the genome, metabolomic profile, and clinical phenotype in adults with early-treated PKU.

Eligibility criteria

Qualifiers

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,

Disqualifiers

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.

Trial design

Treatments tested in this trial

  • Not listed

Trial groups

No trial groups listed

Sponsors and collaborators