Evaluation of BH4 Responsiveness in Our PKU Patients

Sohag University

Status and phase: Active, not recruiting; Phase 1

Conditions: Phenylketonuria (PKU)

Treatments: Drug: Sapropterin Dihydrochloride (BH4, tetrahydrobiopterin)

Study type: Interventional

Funder types: Other

Identifiers

NCT07255599

Soh-Med--25-9-6MS

Details and patient eligibility

About

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

Enrollment: 20 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

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

Trial design

Primary purpose: Diagnostic

Allocation: Non-Randomized

Interventional model: Single Group Assignment

Masking: None (Open label)

---

20 participants in 1 patient group

GROUP 1

Active Comparator group

Description:

Sapropterin Dihydrochloride

Treatment:

Drug: Sapropterin Dihydrochloride (BH4, tetrahydrobiopterin)