Back to Results

Study of Kuvan Treatment in Adults With GTPCH Deficiency

Interested in this Trial?

Contact Us

Trial Status Completed

Trial Identifier

NCT01425528

Condition

GTP Cyclohydrolase Deficiency

The below information is taken directly from public registry websites such as ClinicalTrials.gov, EuClinicalTrials.eu, ISRCTN.com, etc. and has not been edited.

Trial 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.

Eligibility Criteria

Birth Sex

All

Age

From 18 Years

Healthy Volunteers

No

Drug/Treatment:

Sapropterin

Phase:

Phase 1/Phase 2

Study Type:

Interventional

Number of Participants:

12

Study Started:

2011-08

Study Updated:

2025-04-01

Trial Locations

  • University of Utah

    Salt Lake City, Utah, United States

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 administratio

Contact BioMarin Clinical Trials

Please complete and submit the following form to express interest in participating and request more information about one of our active clinical trials

*required fields

"*" indicates required fields

Please select the trial that you are interested in from the dropdown below. Note that this list only includes currently active trials. If you cannot find the trial you are seeking, please enter the study identifier and title in the comments box below, along with any other details you would like us to know to help address your inquiry.
Consent*
Consent*
For more Information about BioMarin's privacy obligations or to exercise your privacy rights, please visit BioMarin's Data Privacy Center.
This field is hidden when viewing the form
This field is hidden when viewing the form
This field is hidden when viewing the form
This field is hidden when viewing the form

What’s Next?

Visit the following links to learn more about clinical trials.

Discuss this trial with your care team.

You may wish to print this page to share the details with your healthcare providers and discuss whether you may be eligible.

Print

Get in touch.

Contact Us