Trial of Kuvan in Lesch-Nyhan Disease

NCT00935753 | Withdrawn Phase 2

• 1 other identifier: WLN01
• Study Type: interventional
• Target: N/A
• Locations: 1 country
• Sites: 1

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 biochemical changes as measured in blood and urine.

Conditions

Behavioral Manifestations of Lesch-Nyhan Disease

Keywords

Lesch-Nyhan Disease; self-mutilating behavior

Outcome Measures

Primary Outcomes (1)

• Clinical responses to be monitored will include frequency and severity of self mutilation episodes, frequency and severity of aggressive acts towards others, and any effect on involuntary movements.

  Periodically during the eight weeks of treatment per patient

Secondary Outcomes (1)

• Effect of Kuvan on standard chemistries, plasma amino acids, and plasma and urinary catecholamines

  Assessed periodically during treatment

Study Arms (1)

Kuvan

EXPERIMENTAL

10mg/kg Kuvan for 5 days followed by 20mg/kg Kuvan for a total of 60 days

Drug: sapropterin

Interventions

sapropterin DRUG

oral 100mg tablets taken intact or dissolved in water or apple juice with morning meal for up to 60 days

Kuvan

Eligibility Criteria

• Age: 4 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• University of California, San Diego: lead
• BioMarin Pharmaceutical: collaborator

Study Sites (1)

UCSD Mitochondrial and Metabolic Disease Center

San Diego, California, 92103, United States

Location

MeSH Terms

Conditions

Lesch-Nyhan Syndrome; Self-Injurious Behavior

Interventions

sapropterin

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; X-Linked Intellectual Disability; Intellectual Disability; Neurobehavioral Manifestations; Neurologic Manifestations; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Heredodegenerative Disorders, Nervous System; Metabolism, Inborn Errors; Purine-Pyrimidine Metabolism, Inborn Errors; Metabolic Diseases; Nutritional and Metabolic Diseases; Behavioral Symptoms; Behavior

Study Officials

• William L Nyhan, MD, PhD

  University of California, San Diego

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: phase 2
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 8, 2009
• First Posted: July 9, 2009
• Study Start: April 1, 2009
• Primary Completion: February 1, 2010
• Study Completion: February 1, 2010
• Last Updated: August 2, 2019

Record last verified: 2019-07

Locations

US (1)