ClinicalTrials.gov record NCT07484945

Multiomics Approach in Adult Patients With Phenylketonuria

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Sep 6, 2026

Relationships Between the Genome and Metabolomic and Phenomic Signatures in Adult Patients With Early-Treated Phenylketonuria: a Multicenter Cross-sectional Study

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.
Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.
Age18 years old and older
SexAll
LocationFrance
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This observational study (GENOPHEN) looks for links between DNA, blood metabolites, and clinical features in adults with early-treated PKU who took part in the ECOPHEN cohort. About 150 participants will provide a saliva sample for whole-genome sequencing; blood serum from the ECOPHEN visits will undergo untargeted metabolomic analysis. The study compares genetic and metabolite patterns with existing clinical and neuropsychological data. It does not assign any treatment.

What it is studying. The study is testing whether specific genetic variants and patterns in blood metabolites are associated with differences in clinical and neuropsychological features among adults with early-treated PKU. It will list and classify variants (including DNAJC12, HULC, SLC7A5, and SHANK genes) from whole-genome sequencing and identify metabolite clusters from untargeted serum analysis, then relate those findings to participants' clinical data.

What the researchers hope to learn. Scientific goals: better understand why adults with early-treated PKU show varied clinical outcomes; identify associations between genetic variants, metabolic profiles, and clinical or neuropsychological features; and gather information that could inform more personalized management or future therapeutic research for adult PKU.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

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

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

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.

Study description and what participation involves

The study's detailed description, as published on ClinicalTrials.gov.

Detailed description from the registry
  • There is a wide clinical variability among PKU patients. Even siblings can present discrepancies regarding the phenotype. The reasons for that are not completely known. There are over 3,300 variants of the PAH gene, some of which influence the severity of the disease, but their impact in adulthood remains poorly understood. Other genes (SLC7A5, HULC, DNAJC12, SHANK family) could also modulate the phenotype.

Working Hypotheses:

  • Some genetic variants influence the severity of neuropsychological and systemic disorders in adults with early-treated PKU.
  • Metabolomic analysis of sera will identify new biomarkers correlated with the severity of the disease.

Methodology:

  • The study is based on the ECOPHEN cohort (187 adult PKU patients followed for 5 years), of which 150 will provide a DNA sample from saliva for whole-genome sequencing.
  • Genetic variants will be sought and correlated with clinical, biological, and neuropsychological data.
  • A non-targeted metabolomic analysis by LC-MS/MS will be performed on the sera, then the metabolic profiles will be associated with phenotypes and genotypes.

Objectives and Expected Outcomes:

  • Better understand the heterogeneity of the disease in adulthood.
  • Identify associations between genetic variants, metabolic profiles, and clinical evolution.
  • Pave the way for personalized management and new therapeutic approaches for adult PKU patients.
AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

Participants will sign informed consent and provide a saliva sample for DNA collection and whole-genome sequencing. The study will use serum samples and clinical and neuropsychological data already collected in the ECOPHEN cohort for untargeted metabolomic analysis and correlation with genetic findings. No additional invasive procedures are specified in the registry beyond the saliva sample. The registry does not provide details about extra visits, follow-up schedules, or participant services.

How the study is structured. Observational, case-only study using participants from the ECOPHEN adult PKU cohort. Participants provide a saliva sample for genome sequencing; the study uses previously collected serum samples for untargeted metabolomic analysis and compares genetic and metabolite findings with existing clinical and neuropsychological data. No treatments are given or assigned.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
  • The listed sites are in France. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

More on phenylketonuria

Clinical trials38 trials listed for phenylketonuriaEvery trial the registry lists for phenylketonuria, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in phenylketonuria researchLatest monthly update: September 2026. Includes: Diet supply gaps. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
Mar 23, 2026
Primary completion
March 2028 (estimated)
Study completion
March 2028 (estimated)
Target enrollment
149 participants (estimated)
Last updated on registry
May 6, 2026
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
University Hospital, Tours

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites (15)

Terms used on this page · explanations by MedicalUpdates.ai

informed consent
The process of explaining a study, including its risks and what participation involves, so that a person can decide freely whether to take part. Consent is usually documented in writing, and a participant can choose to leave the study later.
Inclusion Criteria
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
Exclusion Criteria
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
biomarkers
Something measurable in the body, such as a blood test result or an imaging finding, that indicates how a condition or treatment is behaving.
cohort
A group of people who share a characteristic, such as a diagnosis, and are studied together. 'Prospective' means they are followed forward from enrolment; 'retrospective' means existing records are reviewed.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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