Study of Kuvan Treatment in Adults With GTPCH Deficiency
Status:
Completed
Trial end date:
2013-08-01
Target enrollment:
Participant gender:
Summary
The purpose of this study is to identify the dose of Kuvan needed to normalize the levels of
tetrahydrobiopterin (BH4) in patients with a Guanosine Triphosphate Cyclohydrolase (GTPCH)
deficiency and to asses the potential impact of oral Kuvan on mood and function in
individuals with GTPCH deficiency who may be experiencing symptoms of anxiety, depression,
fatigue, trouble concentrating, or memory loss. This will be a phase one study. The
investigators will monitor patients over a period of three to six months while on the
medication. Medication levels will be monitored by measuring the BH4 levels in cerebral
spinal fluid (CSF). Patients will undergo a baseline lumbar puncture and two follow-up lumbar
punctures for this purpose. The investigators will also monitor emotional function and motor
function.