Trial of Kuvan in Lesch-Nyhan Disease

• Status: Withdrawn
• Trial end date: 2010-02-01
• Target enrollment: 0
• Participant gender: All

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 biochemical changes as measured in blood and urine.

• Phase: Phase 2/Phase 3
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: University of California, San Diego
• Collaborator: BioMarin Pharmaceutical

Criteria

Inclusion Criteria:

1. Ages 4 years and older

2. Must have documented evidence of HPRT deficiency.

3. Be on a stable treatment regimen for 30 days or more

4. Willing and able to travel to San Diego for the study visits

5. 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 Criteria:

1. Concurrent enrollment in an investigational drug study

2. Currently taking levodopa

3. Elevated liver enzymes

4. Renal or liver impairment or disease

5. Inability to comply with required study procedures