Evaluation of BH4 Responsiveness in Our PKU Patients

Phase 1Active Not RecruitingNCT07255599

Sohag University20 enrolled

Overview

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

Study Type

INTERVENTIONAL

Allocation

NON_RANDOMIZED

Purpose

DIAGNOSTIC

Masking

NONE

Enrollment

Conditions

Phenylketonuria (PKU)

Interventions

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.

Eligibility

Sex: ALL

Medical Language ↔ Plain English

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)

Sohag Faculty of Medicine

Sohag, Egypt

Outcomes

Primary Outcomes

• Serum phenylealanine level in patients after given 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 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.

Time frame: Blood samples were taken at Hour = 0, 8, 16, 24 and 48

Data from ClinicalTrials.gov

This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.