How often to check phenylalanine in adults with classic PKU

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This interventional study compares two frequencies of dried blood spot phenylalanine monitoring (weekly vs monthly) in adults with classic PKU. The primary goal is to see how monitoring frequency affects metabolic control, measured by phenylalanine concentration in dried blood spots. Participants are adults 18–65 with documented PKU on a low-phenylalanine diet, and they will be randomized to weekly or monthly Phe monitoring. The trial is conducted with oversight from a university medical center in Kraków and related metabolic disease groups. Results could inform guidelines on optimal monitoring frequency for adult PKU management.

Why it matters

Who can join: the full rules

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

Where it's running

• Department of Diabetology, Internal Medicine, and Metabolic Diseases, Metabolic Diseases Clinic, University Hospital in Kraków
  Krakow, Poland Recruiting

Study contacts

• Principal investigator: Michal Kania — Michał Kania
• Study coordinator: Michal Kania, MD, PhD
• Email: mich.kania@uj.edu.pl
• Phone: +48124002950

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Other studies for the same condition or treatment. Recruiting studies are listed first.

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.