Actively Recruiting

Age: 18Years +
All Genders
NCT07484945

Multiomics Approach in Adult Patients With Phenylketonuria

Led by University Hospital, Tours · Updated on 2026-05-06

149

Participants Needed

15

Research Sites

101 weeks

Total Duration

On this page

AI-Summary

What this Trial Is About

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

CONDITIONS

Official Title

Multiomics Approach in Adult Patients With Phenylketonuria

Who Can Participate

Age: 18Years +
All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • PKU patients over the age of 18
  • Diagnosed through the newborn screening program
  • Participated in the final visit of the ECOPHEN study
  • Affiliated with a health insurance plan
  • Provided signed informed consent for DNA analysis (saliva sample)
Not Eligible

You will not qualify if you...

  • PKU diagnosis not detected during neonatal screening
  • Did not sign a dated informed consent form
  • Unable to provide a saliva sample

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

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Trial Site Locations

Total: 15 locations

1

University hospital

Angers, France, 49000

Not Yet Recruiting

2

University hospital

Bordeaux, France, 33000

Not Yet Recruiting

3

University hospital

Brest, France, 29000

Not Yet Recruiting

4

University hospital

Dijon, France, 21000

Not Yet Recruiting

5

University hospital

Grenoble, France, 38000

Not Yet Recruiting

6

University hospital

Lille, France, 59000

Not Yet Recruiting

7

Civil Hospitals

Lyon, France, 69000

Not Yet Recruiting

8

Conception hospital

Marseille, France, 13000

Not Yet Recruiting

9

University hospital

Nancy, France, 54000

Not Yet Recruiting

10

University hospital

Nantes, France, 44000

Not Yet Recruiting

11

Necker hospital

Paris, France, 75000

Not Yet Recruiting

12

University hospital

Rennes, France, 35000

Not Yet Recruiting

13

University hospital

Saint-Etienne, France, 42000

Not Yet Recruiting

14

University hospital

Toulouse, France, 31000

Not Yet Recruiting

15

university hospital, Tours

Tours, France, 37044

Actively Recruiting

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Research Team

F

François MAILLOT, Pr

CONTACT

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

0

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