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Evaluation of BH4 Responsiveness in Our PKU Patients

NCT07255599 · Status: ACTIVE_NOT_RECRUITING · Phase: PHASE1 · Type: INTERVENTIONAL · Enrollment: 20

Last updated 2025-12-01

No results posted yet for this study

Summary

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

Conditions

  • Phenylketonuria (PKU)

Interventions

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.

Sponsors & Collaborators

  • Sohag University

    lead OTHER

Study Design

Allocation
NON_RANDOMIZED
Purpose
DIAGNOSTIC
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2025-09-01
Primary Completion
2026-01-01
Completion
2026-09-01

Countries

  • Egypt

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT07255599 on ClinicalTrials.gov