RecruitingNCT07484945
Multiomics Approach in Adult Patients With Phenylketonuria
Relationships Between the Genome and Metabolomic and Phenomic Signatures in Adult Patients With Early-Treated Phenylketonuria: a Multicenter Cross-sectional Study
Sponsor
University Hospital, Tours
Enrollment
149 participants
Start Date
Mar 23, 2026
Study Type
OBSERVATIONAL
Conditions
Summary
The GENOPHEN study aims to explore the links between the genome, metabolomic profile, and clinical phenotype in adults with early-treated PKU.
Eligibility
Min Age: 18 Years
Inclusion Criteria5
- 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,
- informed consent dated and signed by patients for DNA analysis (saliva sample)
Exclusion Criteria3
- 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.
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Locations(15)
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NCT07484945
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