Status:
COMPLETED
Study of Kuvan Treatment in Adults With GTPCH Deficiency
Lead Sponsor:
University of Utah
Collaborating Sponsors:
BioMarin Pharmaceutical
Conditions:
GTP Cyclohydrolase Deficiency
Eligibility:
All Genders
18+ years
Phase:
PHASE1
PHASE2
Brief 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 t...
Eligibility Criteria
Inclusion
- 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
- 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
Key Trial Info
Start Date :
August 1 2011
Trial Type :
INTERVENTIONAL
Allocation :
ACTUAL
End Date :
August 1 2013
Estimated Enrollment :
12 Patients enrolled
Trial Details
Trial ID
NCT01425528
Start Date
August 1 2011
End Date
August 1 2013
Last Update
April 1 2025
Active Locations (1)
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1
University of Utah
Salt Lake City, Utah, United States, 84132