Study of Kuvan Treatment in Adults With GTPCH Deficiency
Study of Kuvan Treatment in Adults With GTPCH Deficiency
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.
Inclusion Criteria:

 -  established diagnosis of GTPCH deficiency, supported by appropriate family history,
 CSF neurotransmitter studies, skin fibroblast enzyme assay and/or mutation analysis

 -  minimum age 18 years

 -  identified by self or others to have symptoms of anxiety, depression, fatigue, or
 other neurocognitive dysfunction (trouble concentrating, memory loss, etc)

 -  willingness to undergo at least 2 CSF evaluations for BH4 and neurotransmitter levels
 over an 8 to 12 week period

 Exclusion Criteria:

 -  age < 18 years old

 -  unwillingness to undergo repeated CSF analysis

 -  lack of supporting diagnostic criteria

 -  concomitant medical problems or medications which would increase risk of Kuvan®

 -  concomitant psychiatric state, such as severe depression with suicidal ideation that
 requires immediate referral and alternative treatment intervention

 -  prior history of back surgery, abnormality or chronic pain that in the opinion of the
 investigator would increase risks associated with lumbar puncture

 -  significant obesity that might increase difficulty or risk in performing lumbar
 puncture

 -  if female, unwillingness to use birth control during the period of study drug
 administration