Status:
WITHDRAWN
Trial of Kuvan in Lesch-Nyhan Disease
Lead Sponsor:
University of California, San Diego
Collaborating Sponsors:
BioMarin Pharmaceutical
Conditions:
Behavioral Manifestations of Lesch-Nyhan Disease
Eligibility:
All Genders
4+ years
Phase:
PHASE2
PHASE3
Brief Summary
To assess the possibility that treatment with Kuvan (a form of tetrahydrobiopterin) will lessen the abnormal behavior and/or neurology commonly found in Lesch-Nyhan disease (LND); to assess biochemica...
Detailed Description
Lesch-Nyhan disease (LND) is an X-linked disorder of purine metabolism which results from mutation in the gene for the enzyme hypoxanthineguanine phosphoribosyltransferase (HPRT); patients have hyperu...
Eligibility Criteria
Inclusion
- Ages 4 years and older
- Must have documented evidence of HPRT deficiency.
- Be on a stable treatment regimen for 30 days or more
- Willing and able to travel to San Diego for the study visits
- Have a local neurologist or physician familiar with the patient or experienced in managing behavioral/neuromuscular disorders and willing to assist with study procedures and adverse events if necessary
Exclusion
- Concurrent enrollment in an investigational drug study
- Currently taking levodopa
- Elevated liver enzymes
- Renal or liver impairment or disease
- Inability to comply with required study procedures
Key Trial Info
Start Date :
April 1 2009
Trial Type :
INTERVENTIONAL
Allocation :
ACTUAL
End Date :
February 1 2010
Estimated Enrollment :
Patients enrolled
Trial Details
Trial ID
NCT00935753
Start Date
April 1 2009
End Date
February 1 2010
Last Update
August 2 2019
Active Locations (1)
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1
UCSD Mitochondrial and Metabolic Disease Center
San Diego, California, United States, 92103