48-Hour test may predict who benefits from PKU drug

NCT ID NCT07255599

First seen Jun 24, 2026 · Last updated Jun 27, 2026 · Updated 1 time

Summary

This study tests whether a 48-hour BH4 loading test can predict which people with phenylketonuria (PKU) will respond to treatment. Twenty participants receive BH4 and have their blood phenylalanine levels measured over two days. The goal is to link test results with each person's genetic makeup to improve personalized care.

What this could mean

Our plain-language read of the trial. This is informational only — not medical advice or a prediction.

Active substance
Sapropterin Dihydrochloride (BH4, tetrahydrobiopterin)
What this could lead to
If successful, this could help doctors quickly identify which PKU patients benefit from BH4 therapy, personalizing treatment and avoiding unnecessary medication.
What could go wrong
This is a small, early-phase study with only 20 participants, so results may not apply to all PKU patients. The 48-hour test may not reliably predict long-term response.

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Conditions

The condition(s) this trial relates to.

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Contacts and locations

Locations

  • Sohag Faculty of Medicine

    Sohag, Egypt

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Other studies related to the condition(s) this trial covers.