Evaluation of BH4 Responsiveness in Our PKU Patients

NCT07255599 | Active Not Recruiting Phase 1

• 1 other identifier: Soh-Med--25-9-6MS
• Study Type: interventional
• Target: 20
• Locations: 1 country
• Sites: 1

Brief Summary

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

Conditions

Phenylketonuria (PKU)

Keywords

PKU

Outcome Measures

Primary Outcomes (1)

• • 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.

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

Study Arms (1)

GROUP 1

ACTIVE COMPARATOR

Sapropterin Dihydrochloride

Drug: Sapropterin Dihydrochloride (BH4, tetrahydrobiopterin)

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.

GROUP 1

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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

You may not qualify if:

• if phenylalanine was less than 400 μmol/l

Sponsors & Collaborators

• Sohag University: lead

Study Sites (1)

Sohag Faculty of Medicine

Sohag, Egypt

Location

MeSH Terms

Conditions

Phenylketonurias

Interventions

sapropterin

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Amino Acid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Design

• Study Type: interventional
• Phase: phase 1
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: principal investigator

Study Record Dates

• First Submitted: September 25, 2025
• First Posted: December 1, 2025
• Study Start: September 1, 2025
• Primary Completion: January 1, 2026
• Study Completion (Estimated): September 1, 2026
• Last Updated: December 1, 2025

Record last verified: 2025-11

Locations

EG (1)