Pku Phenylketonuria

PAH Deficiency

oral administration of 20 mg/kg KUVAN (BH4)

BH4 Responsiveness in PAH Deficiency PKU Patients

To Evaluate BH4 Responsiveness in PAH Deficiency PKU Patients Who Failed to Achieve 30% Blood Phe Reduction Within 24-hour BH4 Loading Test by Extending the Period of BH4 Response Test: A Pilot Study in Taiwan

Changes of blood Phe level from baseline at the 7th, 14th, and 28th day

Percentage of the study patients whose blood Phe level decreases for >= 30%

Percentage of the study patients whose Phe tolerance increase from baseline for >=50%

Correlation between PAH gene mutation and blood Phe level reduction

vghtpe user

Chairman, Department of Pediatrics

Taipei Veterans General Hospital, Taiwan

BioMarin Pharmaceutical

Subjects will receive 6R-BH4 400mg bid for 6 weeks, sequentially followed by 6R-BH4 plus Vitamin C 500mg bid for another 6 weeks. Patients will have scheduled visits at Weeks 0,3,6,9 and 12, with an exit-visit at week 16. Albuminuria will be assessed in 24-hour urine collections as well as early morning spot urine samples for albumin:creatinine ratio. Blood and urine will be tested for routine clinical laboratory tests, blood nitric oxide (NO), and also archived for later assays for special biomarkers. The primary outcome will be level of albuminuria as measured in a 24-hour urine collection at 6 and 12 weeks of therapy. Secondary outcomes will include urine albumin/creatinine ratio, estimated glomerular filtration rate (eGFR), and blood pressure .

NA
Tetrahydrobiopterin (6R BH4) : 400 mg 6R BH4 oral BID for 6 weeks then 400 mg of 6R BH4 for another 6 weeks
Vitamin C : 500 mg Vitamin C oral BID for another 6 weeks

1BH4, BH4 + Vitamin C

Sex: Female, Male

Region of Enrollment

Early morning urine specimens were collected to calculate albumin and creatinine ratio (albuminuria) at 6 and 12 weeks of therapy.

The Primary Outcome Measure is Level of Albuminuria.

Systolic Blood Pressure Measured at 6 and 12 Weeks of Therapy.

Estimated Glomerular Filtration Rate (eGFR) Measured at 6 and 12 Weeks of Therapy.

N/A
Tetrahydrobiopterin (6R BH4) : 400 mg 6R BH4 oral BID for 6 weeks then 400 mg of 6R BH4 for another 6 weeks
Vitamin C : 500 mg Vitamin C oral BID for another 6 weeks

Overall Study

Rajiv Saran, MD

BH4, BH4 + Vit C

Kidney Disease

Albuminuria

400 mg 6R BH4 oral BID for 6 weeks then 400 mg of 6R BH4 for another 6 weeks in all arms

6R BH4

500 mg Vitamin C oral BID for another 6 weeks

phenylketonurias/ألبيومين

BH4 Responsiveness in PAH Deficiency PKU Patients

Tetrahydrobiopterin in Patients With Chronic Kidney Disease (CKD) and Albuminuria

قاعدة بيانات الأعشاب الطبية الأكثر اكتمالا التي يدعمها العلم