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PKU gene study seeks clues in adult health

NCT ID NCT07484945

Knowledge-focused Sponsor: University Hospital, Tours Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study looks at how genes and body chemistry are linked in adults with phenylketonuria (PKU) who were treated early in life. Researchers will analyze blood and saliva samples from 149 participants to find patterns that may explain differences in health and thinking skills. No new treatment is being tested; the goal is to better understand the condition.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 149 people

The number the study aims to enrol. It can still change while the study runs.

Started

Mar 2026

Expected to finish

Mar 2028

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

PKU adult patients

Ages

18 years and older

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: * 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 Criteria: * 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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Conditions

The condition(s) this trial relates to.

phenylketonuria

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Phenylketonuria (PKU)

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    15 sites. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • Civil Hospitals

    NOT_YET_RECRUITING

    Lyon, 69000, France

  • Conception hospital

    NOT_YET_RECRUITING

    Marseille, 13000, France

  • Necker hospital

    NOT_YET_RECRUITING

    Paris, 75000, France

  • University hospital

    NOT_YET_RECRUITING

    Angers, 49000, France

  • University hospital

    NOT_YET_RECRUITING

    Bordeaux, 33000, France

  • University hospital

    NOT_YET_RECRUITING

    Brest, 29000, France

  • University hospital

    NOT_YET_RECRUITING

    Dijon, 21000, France

  • University hospital

    NOT_YET_RECRUITING

    Grenoble, 38000, France

  • University hospital

    NOT_YET_RECRUITING

    Lille, 59000, France

  • University hospital

    NOT_YET_RECRUITING

    Nancy, 54000, France

  • University hospital

    NOT_YET_RECRUITING

    Nantes, 44000, France

  • University hospital

    NOT_YET_RECRUITING

    Rennes, 35000, France

  • University hospital

    NOT_YET_RECRUITING

    Saint-Etienne, 42000, France

  • University hospital

    NOT_YET_RECRUITING

    Toulouse, 31000, France

  • university hospital, Tours

    RECRUITING

    Tours, 37044, France

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