Multiomics Approach in Adult Patients With Phenylketonuria
ConditionPhenylketonuria (PKU)
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age18+
SponsorUniversity Hospital, Tours
About this trial
The GENOPHEN study aims to explore the links between the genome, metabolomic profile, and clinical phenotype in adults with early-treated PKU.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
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,
Disqualifiers
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.
Trial population
PKU adult patients
Trial design
Design model
Case-only
Time perspective
Prospective
Treatments tested in this trial
Not listed
Trial groups
No trial groups listed
Trial outcomes
Primary outcomes
1
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
Enrolment2
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
EnrolmentSecondary outcomes
1
Number of patients with neurological complications
Time frame
Enrolment2
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
Enrolment3
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
Enrolment4
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
EnrolmentSponsors and contacts
Click on the lead sponsor to view all of their trials.
Source ClinicalTrials.gov