An interventional study of DBS Phe monitoring once weekly and DBS Phe monitoring once monthly in Phenylketonuria (PKU), sponsored by Michał Kania. Recruiting at 1 site in Poland. Open to participants aged 18 Years to 65 Years. Per ClinicalTrials.gov, last updated 2026-09-17.
Sponsored by Michał Kania · Not applicable, Interventional, and Treatment
Recommendations regarding the frequency of phenylalanine level monitoring lack solid support from evidence derived from prospective randomized trials, including in the adult population with classic PKU. Current recommendations indicate that in adults (excluding the period of pregnancy planning and pregnancy itself), Phe levels should be assessed at least once a month or more frequently if additional indications exist. As part of this study, we plan to obtain, for the first time, high-quality data on the impact of Phe monitoring frequency on Phe control in adults. The primary objective of the study will be to assess the effect of the frequency (once a week versus once a month) of Phe level measurements on the metabolic control of phenylketonuria, as expressed by Phe concentration in DBS, in adult patients with the classic form of phenylketonuria.
Clinical diagnosis of classic phenylketonuria (PKU) documented in the medical history by at least 2 measurements of blood phenylalanine concentration
≥600 μmol/l and a predicted PAH enzyme activity \<1% (GPV), requiring treatment with a low-protein diet supplemented with special low-phenylalanine amino acid mixtures
Exclusion Criteria:
Sequence 1 starts with intervention period 1 with DBS Phe measurements once a week for 24 weeks, followed by a 2-week wash-out period and intervention period 2 with DBS Phe measurements once a month for 24 weeks.
Other: DBS Phe monitoring once weekly · Other: DBS Phe monitoring once monthly
Sequence 2 starts with intervention period 1 with DBS Phe measurements once a month for 24 weeks, followed by a 2-week wash-out period and intervention period 2 with DBS Phe measurements once a week for 24 weeks.
Other: DBS Phe monitoring once weekly · Other: DBS Phe monitoring once monthly
In the intervention period participants will measure their Phe levels via DBS once a week as compared to once weekly.
In the control period participants will measure their Phe levels via DBS once monthly.
Change in Phe concentration in the DBS measurement
Change in Phe concentration in the DBS measurement from the baseline (O1) to the 5th and 6th months in each intervention period (average of measurements O140 and O168 \[measurements once a month\] OR O119 O168 \[measurements taken once a week\]).
Time frame: from the baseline (O1) to the 5th and 6th months in each intervention period (average of measurements O140 and O168 [measurements once a month] OR O119 O168 [measurements taken once a week]).
Plan to share: No — Sponsor requirement.
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