Evaluation of BH4 Responsiveness in Our PKU Patients

NCT07255599 — Phase 1, Active not recruiting, 20 participants, Sohag University

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Tetrahydrobiopterin Responsiveness in Phenylketonuria Prediction With the 48-hour Loading Test and Genotype

Registry	NCT07255599
Status	Active not recruiting
Phase	Phase 1
Study type	Interventional; non randomized, single group, masking: none, diagnostic
Enrollment	20 (Estimated)
Sponsor	Sohag University (Other)
Conditions	Phenylketonuria (PKU)
Interventions	Sapropterin Dihydrochloride (BH4, tetrahydrobiopterin) (Drug)
Dates	start 2025-09-01, primary completion 2026-01-01 (estimated), completion 2026-09-01 (estimated), first posted 2025-12-01, last updated 2025-12-01
Locations	1 site in Egypt

-Summary

This study aims to evaluate BH4 responsiveness in our PKU patients and to correlate BH4 responsiveness with their genotype

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+Arms and interventions

Arm	Type	Interventions	Description
GROUP 1	Active comparator	Drug: Sapropterin Dihydrochloride (BH4, tetrahydrobiopterin)	Sapropterin Dihydrochloride

Sapropterin Dihydrochloride (BH4, tetrahydrobiopterin) (Drug): Patients were supplemented with phenylalanine a protein rich supplement based on milk protein, or an increase in natural protein intake) if phenylalanine was < 400 μmol/l. BH4 20 mg/kg was administered at T = 0 and T = 24. Blood samples were taken at T = 0, 8, 16, 24 and 48 h. Responsiveness was defined as ≥ 30% reduction in phenylalanine concentration at ≥ 1 time point.

+Outcome measures

Primary outcomes

• Serum phenylealanine level in patients after given tetrahydrobiopterin [Blood samples were taken at Hour = 0, 8, 16, 24 and 48]: Patients were supplemented with phenylalanine a protein rich supplement based on milk protein, or an increase in natural protein intake) if phenylalanine was < 400 μmol/l. BH4 20 mg/kg was administered for 48 hours . Blood samples were taken at Hour = 0, 8, 16, 24 and 48 . Responsiveness was defined as ≥ 30% reduction in phenylalanine concentration at ≥ 1 time point.

+Eligibility

Sex: All

Inclusion Criteria:

* Patients were supplemented with phenylalanine a protein rich supplement based on milk protein, or an increase in natural protein intake) if phenylalanine was < 400 μmol/l

Exclusion Criteria:

* if phenylalanine was less than 400 μmol/l

+Locations (1)

Facility	City	Country	Status
Sohag Faculty of Medicine	Sohag	Egypt