Evaluation of responsiveness to Sapropterin treatment in Thai patient with phenylketonuria

• Conditions: Responsiveness to Sapropterin in Thai patient with Phenylketonuria; Phenylketonuria, PKU, Sapropterin, BH4

• Registration Number: TCTR20231002005
• Lead Sponsor: Faculty of medicine Siriraj Hospital

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Study Start: 2023-10-02
• Study Completion: 2024-06-30
• Last Update Posted: 19 August 2024

Recruitment & Eligibility

• Status: Pending (Not yet recruiting)
• Sex: All
• Target Recruitment: 8

Inclusion Criteria

Thai patient with PKU who follow up in Faculty of Medicine Siriraj Hospital.
The neonates who are positive from newborn screening and suspected to be PKU.

Exclusion Criteria

The patient's serum Phenylalanine level is lower than 360 umol/L or higher than 2,000 umol/L
The PAH gene mutation is not identified in the patient.
The patient deny the treatment by Sapropterin.
The patient is older than 18 years.

Study & Design

• Study Type: Observational
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
responsiveness to Sapropterin 2 days Phenylalanine level after Saproterin loading test / 30 % decrease of phenylalanine level is defined as sapropterin responsive

Secondary Outcome Measures

Name	Time	Method
Genotype - phenotype relation 2 days Means, Median, 95% CI ,Change in protein of food intake. 6 months Protein and phenylalanine in food intake/ gram or milligram per day