Evaluation of BH4 Responsiveness in Our PKU Patients

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

Active, Not Recruiting

This study is active but is not currently recruiting participants.

Key information

Conditions

Phenylketonuria (PKU) Amino Acid Metabolism, Inborn Errors Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases Phenylketonurias

Sex eligibility

All sexes

Study type

Interventional

Phase

Phase 1

Primary location

Sohag Faculty of Medicine

Sohag, Egypt

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

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.

Primary outcomes

• Serum phenylealanine level in patients after given tetrahydrobiopterin

Time frame: 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.

Sponsors and collaborators

Lead sponsor

Sohag University

Other

Registry information

Official study title

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

Important dates

Study start: 2025
Primary completion: 2026
Study completion: 2026
First posted: Dec 1, 2025
Registry last updated: Dec 1, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Active, Not Recruiting