Study of Kuvan Treatment in Adults With GTPCH Deficiency

PHASE1/PHASE2CompletedINTERVENTIONAL
Enrollment

12

Participants

Timeline

Start Date

August 31, 2011

Primary Completion Date

August 31, 2013

Study Completion Date

August 31, 2013

Conditions
GTP Cyclohydrolase Deficiency
Interventions
DRUG

Sapropterin

Sapropterin will be taken daily for 12 or 24 weeks. Starting dose will be 20mg/kg/day and will increase at the 8 week visit to 30 mg/kg/day. Dosing may be further increased to as high as 40 mg/kg/day in attempt to normalize BH4 levels in CSF. Starting dose for Cohort 2 will be determined from data analysis in Cohort 1.

Trial Locations (1)

84132

University of Utah, Salt Lake City

Sponsors

Collaborators (1)

All Listed Sponsors
collaborator

BioMarin Pharmaceutical

INDUSTRY

lead

University of Utah

OTHER