Multiomics (genome plus metabolome) approach for adults with phenylketonuria
Official title: Relationships Between the Genome and Metabolomic and Phenomic Signatures in Adult Patients With Early-Treated Phenylketonuria: a Multicenter Cross-sectional Study
Run by University Hospital, Tours · NCT07484945 · Data updated 2026-11-12
This project will test whether combining whole-genome sequencing from saliva and non-targeted blood metabolomics can find genetic and metabolic patterns linked to symptoms in adults who were treated for phenylketonuria from birth.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 18 Years and up |
| Sex | All |
| Enrollment | 149 (estimated) |
| Sponsor | University Hospital, Tours Academic / other |
| Locations | 15 sites (Angers and 14 other locations) |
| Status | Recruiting |
| Started | March 23, 2026 |
| Main results expected | March 2028 |
| Study ends | March 2028 |
| Registry record updated | May 6, 2026 |
| Trial ID | NCT07484945 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Adults (18 or older) with PKU diagnosed by newborn screening who participated in the ECOPHEN final visit, have health insurance, can provide informed consent, and are able to give a saliva sample.
✕Probably not a fit
Patients diagnosed after the neonatal period, children under 18, or those unable to provide a saliva sample or consent are unlikely to benefit from this specific protocol.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
Adults with early-treated phenylketonuria (PKU) show wide clinical variability that is not fully explained by known PAH gene variants, and other modifier genes may influence adult outcomes. The project will use the ECOPHEN cohort, collecting saliva for whole-genome sequencing from about 150 participants and performing non-targeted LC-MS/MS metabolomic profiling on serum samples. Genetic variants and metabolic profiles will be correlated with clinical, biological, and neuropsychological data to identify genotype–phenotype relationships and candidate biomarkers. Results are intended to clarify disease heterogeneity in adulthood and inform more personalized management and potential therapeutic targets.
Why it matters
Potential benefit: If successful, this work could identify biomarkers and genetic modifiers that enable more personalized care and new treatment strategies for adults with PKU.
How similar studies have gone: Prior PKU research has shown some PAH genotype–phenotype links and small metabolomics studies have suggested candidate biomarkers, but combining whole-genome sequencing and non-targeted serum metabolomics in adult PKU is largely novel.
Who can join: the full rules
Show full inclusion / exclusion criteria
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.
Where it's running
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university hospital, Tours
Tours, France Recruiting -
University hospital
Angers, France Not yet recruiting -
University hospital
Bordeaux, France Not yet recruiting -
University hospital
Brest, France Not yet recruiting -
University hospital
Dijon, France Not yet recruiting -
University hospital
Grenoble, France Not yet recruiting
Show 9 more locations
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University hospital
Lille, France Not yet recruiting -
Civil Hospitals
Lyon, France Not yet recruiting -
Conception hospital
Marseille, France Not yet recruiting -
University hospital
Nancy, France Not yet recruiting -
University hospital
Nantes, France Not yet recruiting -
Necker hospital
Paris, France Not yet recruiting -
University hospital
Rennes, France Not yet recruiting -
University hospital
Saint-Etienne, France Not yet recruiting -
University hospital
Toulouse, France Not yet recruiting
Study contacts
- Principal investigator: Yannick MOUPATAM-NGAMBY-ADRIAASEN, Sir — University, Tours
- Study coordinator: François MAILLOT, Pr
- Email: francois.maillot@univ-tours.fr
- Phone: 2.47.47.37.15
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
-
How often to check phenylalanine in adults with classic PKU
This study tests whether checking phenylalanine levels weekly instead of monthly helps adults with classic PKU keep their levels under better control.
-
MZE782 in adults with phenylketonuria (PKU) testing safety and efficacy
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-
PL54 injection safety in adults with PKU
This study tests whether PL54 is safe and tolerable when given once or in multiple weekly shots to adults with phenylketonuria.
-
Investigating brain aging in adults with phenylketonuria
This study looks at how living with phenylketonuria (PKU) affects brain aging and thinking skills in adults who have followed a special diet since they were babies.
-
Long-term JNT-517 treatment for people with phenylketonuria
This trial tests the long-term safety of JNT-517 in children and adults with PKU, including people who previously took JNT-517 and those who are new to the drug.
-
Long-term evaluation of immune response in PKU patients receiving Palynziq
This study is testing how well Palynziq works over 10 years for people with PKU by looking at their immune responses and overall health.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.