Phenylketonuria (PKU)
Conditions
Keywords
phenylketonuria, PKU, hyperphenylalaninemia, dried blood spot, DBS, phenylalanine, Phe, monitoring
Brief summary
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.
Interventions
OTHERDBS Phe monitoring once weekly
In the intervention period participants will measure their Phe levels via DBS once a week as compared to once weekly.
OTHERDBS Phe monitoring once monthly
In the control period participants will measure their Phe levels via DBS once monthly.
Sponsors
Michał Kania
Jagiellonian University Medical College - Department and Clinic of Metabolic Diseases (Katedra i Klinika Chorób Metabolicznych UJ)
Polskie Towarzystwo Wrodzonych Was Metabolizmu
Study design
Allocation
RANDOMIZED
Intervention model
CROSSOVER
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
18 Years to 65 Years
Healthy volunteers
No
Inclusion criteria
1. Informed consent to participate in the study 2. Male or female participants aged ≥18 and ≤65 years 3. 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 4. Blood phenylalanine concentration in the range of 360-900 μmol/l during current therapy at the time of screening, and blood phenylalanine concentration in the range of 360-900 μmol/L during current treatment, based on the arithmetic mean of the last 3 Phe measurements from the participant's medical history (including the value from the screening) 5. Ability and willingness, in the investigator's opinion, to comply with all requirements of the study.
Exclusion criteria
* 1\. Patients who have not followed a phenylalanine (Phe)-restricted diet for 6 months prior to the start of the study or who are not willing to continue this diet 2. Phe concentration \> 900 μmol/L in any measurement taken within 6 months prior to the start of the study 3. Drug or alcohol abuse 4. A person who, in the investigator's opinion, is unable or unwilling to comply with the study requirements. Persons who are legally incapacitated will not be eligible to participate in the study 5. Current participation in another clinical trial or use of any experimental drug within 30 days prior to screening 6. Planning a pregnancy or being pregnant 7. Confirmed diagnosis of primary BH4 deficiency, documented by the presence of pathogenic mutations in both alleles of the following genes: 6-pyroyl-tetrahydrobiopterin synthase, recessive guanosine triphosphate (GTP) cyclohydrolase, sepiapterin reductase, dihydropteridine quinonoid reductase, or pterin 4 alpha-carbinolamine dehydratase 8. Use of sapropterin, sepiapterin, or pegvaliaza concurrently or within 365 days prior to screening
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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]). | 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 \[measurements taken once a week\]). |
Countries
Poland
Contacts
CONTACTMichal Kania, MD, PhD
PRINCIPAL_INVESTIGATORMichal Kania
Michał Kania
Outcome results
None listed