NCT07484945

Brief Summary

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

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
149

participants targeted

Target at P50-P75 for all trials

Timeline
22mo left

Started Mar 2026

Geographic Reach
1 country

15 active sites

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress6%
Mar 2026Mar 2028

First Submitted

Initial submission to the registry

February 12, 2026

Completed
1 month until next milestone

First Posted

Study publicly available on registry

March 20, 2026

Completed
3 days until next milestone

Study Start

First participant enrolled

March 23, 2026

Completed
1.9 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

March 1, 2028

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

March 1, 2028

Last Updated

May 6, 2026

Status Verified

April 1, 2026

Enrollment Period

1.9 years

First QC Date

February 12, 2026

Last Update Submit

April 29, 2026

Conditions

Phenylketonuria (PKU)

Keywords

salivagenetics

Outcome Measures

Primary Outcomes (2)

  • Identification of metabolite clusters

    untargeted metabolomic analysis of plasma samples collected during the ECOPHEN study Phenylalanine level (\> 900 µmol/L, 900-600 µmol/L, \< 600 µmol/L), response to BH4 (Complete response: decrease in Phe levels after treatment leading to normalization of Phe levels; partial response: 30% decrease without normalization; non-responder: decrease of less than 30% in Phe levels.)

    Enrolment

  • Identification of genetic variants DNAJC12, HULC, SLC7A5, and SHANK and other ones

    genome sequencing of DNA collected from saliva samples during the GENOPHEN study. The DNAJC12, HULC, SLC7A5, and SHANK (SHANK1, SHANK2, and SHANK3) variants will be listed and classified as frequent (allele frequency \> 1%) or rare (allele frequency \< 1%) according to the gnomAD database. The same will apply to other variants potentially identified by genome sequencing.

    Enrolment

Secondary Outcomes (7)

  • Number of patients with neurological complications

    Enrolment

  • average intelligence quotient (IQ)

    Enrolment

  • California Verbal Learning Test

    Enrolment

  • Trail Making Test

    Enrolment

  • Beck Depression Inventory

    Enrolment

  • +2 more secondary outcomes

Eligibility Criteria

Age18 Years+
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

PKU adult patients

You may qualify if:

  • 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)

You may not qualify if:

  • 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.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (15)

University hospital

Angers, 49000, France

NOT YET RECRUITING

University hospital

Bordeaux, 33000, France

NOT YET RECRUITING

University hospital

Brest, 29000, France

NOT YET RECRUITING

University hospital

Dijon, 21000, France

NOT YET RECRUITING

University hospital

Grenoble, 38000, France

NOT YET RECRUITING

University hospital

Lille, 59000, France

NOT YET RECRUITING

Civil Hospitals

Lyon, 69000, France

NOT YET RECRUITING

Conception hospital

Marseille, 13000, France

NOT YET RECRUITING

University hospital

Nancy, 54000, France

NOT YET RECRUITING

University hospital

Nantes, 44000, France

NOT YET RECRUITING

Necker hospital

Paris, 75000, France

NOT YET RECRUITING

University hospital

Rennes, 35000, France

NOT YET RECRUITING

University hospital

Saint-Etienne, 42000, France

NOT YET RECRUITING

University hospital

Toulouse, 31000, France

NOT YET RECRUITING

university hospital, Tours

Tours, 37044, France

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Saliva

MeSH Terms

Conditions

Phenylketonurias

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, InbornBrain Diseases, MetabolicBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesAmino Acid Metabolism, Inborn ErrorsMetabolism, Inborn ErrorsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesMetabolic DiseasesNutritional and Metabolic Diseases

Study Officials

  • Yannick MOUPATAM-NGAMBY-ADRIAASEN, Sir

    University, Tours

    PRINCIPAL INVESTIGATOR

Central Study Contacts

François MAILLOT, Pr

CONTACT

2.47.47.37.15francois.maillot@univ-tours.fr

Study Design

Study Type
observational
Observational Model
CASE ONLY
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

February 12, 2026

First Posted

March 20, 2026

Study Start

March 23, 2026

Primary Completion (Estimated)

March 1, 2028

Study Completion (Estimated)

March 1, 2028

Last Updated

May 6, 2026

Record last verified: 2026-04

Locations

FR(15)