Trials / Active Not Recruiting
Active Not RecruitingNCT07255599
Evaluation of BH4 Responsiveness in Our PKU Patients
Tetrahydrobiopterin Responsiveness in Phenylketonuria Prediction With the 48-hour Loading Test and Genotype
- Status
- Active Not Recruiting
- Phase
- Phase 1
- Study type
- Interventional
- Enrollment
- 20 (estimated)
- Sponsor
- Sohag University · Academic / Other
- Sex
- All
- Age
- —
- Healthy volunteers
- Not accepted
Summary
This study aims to evaluate BH4 responsiveness in our PKU patients and to correlate BH4 responsiveness with their genotype
Conditions
Interventions
| Type | Name | Description |
|---|---|---|
| DRUG | Sapropterin Dihydrochloride (BH4, tetrahydrobiopterin) | 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. |
Timeline
- Start date
- 2025-09-01
- Primary completion
- 2026-01-01
- Completion
- 2026-09-01
- First posted
- 2025-12-01
- Last updated
- 2025-12-01
Locations
1 site across 1 country: Egypt
Source: ClinicalTrials.gov record NCT07255599. Inclusion in this directory is not an endorsement.