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Completed

NCT Number: NCT01425528

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.

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Key information

Conditions

GTP Cyclohydrolase Deficiency

Age range

18 year and older

Sex eligibility

All sexes

Study type

Interventional

Phase

Phase 1 / Phase 2

Primary location

University of Utah

Salt Lake City, Utah, 84132, United States

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Sapropterin

Drug

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.

Other names: Kuvan

Primary outcomes

  1. Change in BH4 Levels in Cerebral Spinal Fluid

    Time frame: Baseline, 8 wks, 12 wks

    Identify dosing range of oral Kuvan® necessary and sufficient to normalize CSF BH4 levels in adults with GTPCH Deficiency.

Sponsors and collaborators

Lead sponsor

University of Utah

Other

Collaborators

  • BioMarin Pharmaceutical

Registry information

Official study title

Pilot Study to Assess Impact of Kuvan® Supplementation as an Adjunct Treatment in Subjects With Dominantly-inherited GTPCH Deficiency on Mood, Behavioral and Motor Phenotypes

Important dates

Study start
2011
Primary completion
2013
Study completion
2013
First posted
Aug 30, 2011
Registry last updated
Apr 1, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.