An observational study in Phenylketonuria (PKU), sponsored by University Hospital, Tours. Recruiting at 15 sites in France. Open to participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2026-05-06.
Sponsored by University Hospital, Tours · Observational
The GENOPHEN study aims to explore the links between the genome, metabolomic profile, and clinical phenotype in adults with early-treated PKU.
Working Hypotheses:
Methodology:
Objectives and Expected Outcomes:
183 studies on the registry are indexed under Phenylketonurias; 38 are open to participants now.
This study's planned enrollment of 149 is above the median of 40 across 60 observational studies indexed under Phenylketonurias.
Browse Phenylketonurias studies →University Hospital, Tours is the lead sponsor of 304 studies on the registry; 78 are open to participants now.
Counted across the registry records on this site, refreshed daily.
PKU adult patients
Exclusion Criteria:
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.)
Time frame: 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.
Time frame: Enrolment
Number of patients with neurological complications
Time frame: Enrolment
average intelligence quotient (IQ)
WAIS IV results identified in the ECOPHEN cohort study (\>= 130 : Very superior; 120-129 Superior; 110-119 High average; 90-109 Average; 80-89 : Low average; 70-79 Borderline; =\< 69 Extremely low)
Time frame: Enrolment
California Verbal Learning Test
CVLT results identified in the ECOPHEN cohort study. There is no minimum or maximum score; it is a "raw" score.
Time frame: Enrolment
Trail Making Test
TMT results identified in the ECOPHEN cohort study. This is the number of seconds it takes to finish connecting the points on a "path" consisting of 25 points; the lower the number, the better (the patient is faster), but there isn't really a minimum and no maximum.
Time frame: Enrolment
Beck Depression Inventory
BDI test results identified in the ECOPHEN cohort study The score ranges from 0 to 63, with the following qualitative interpretations: 0-13: minimal depression; 14-19: mild depression; 20-28: moderate depression; 29-63: severe depression
Time frame: Enrolment
Weight changes
Body mass index (Kg/m2)
Time frame: Time of enrollment
Bone mineral density changes
Bone mineral density, measured by DWA, expressed as Z-scores
Time frame: Enrolment
Plan to share: Undecided
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University Hospital, Tours