A Phase 2/3 interventional study of sapropterin in Behavioral Manifestations of Lesch-Nyhan Disease, sponsored by University of California, San Diego. Withdrawn at 1 site in United States. Open to participants aged 4 Years and older. Per ClinicalTrials.gov, last updated 2019-08-02.
Sponsored by University of California, San Diego · Phase 2/3, Interventional, and Treatment
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.
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 hyperuricemia, gout, urinary tract calculi, and nephropathy which are effectively treated with allopurinol. There is also a syndrome of dystonia, chorea and athetosis, as well as involuntary self mutilative biting and aggression toward their caretakers, for which there is no treatment.
Kuvan™ is a form of tetrahydrobiopterin (BH4), and is approved to help lower the blood levels of phenylalanine in people who have phenylketonuria (PKU). LND patients have been found to have decreased BH4 in the spinal fluid and brain; BH4 is a precursor of dopamine, which has an effect on behavior. In an earlier study Dr Nyhan found that treatment of LND with 5-hydroxytryptophan and carbidopa abolished the self-injurious behavior but was uniformly transient.
This is a single site open-label protocol for eight subjects age 4 years and older with Lesch-Nyhan Disease documented by deficiency of HPRT.
The study involves three study visits to San Diego and one study visit done locally. The first visit will last 13 days, the following visits are single day visits at week 4 and week 8, and the local study visit is a brief outpatient visit at week 6. Physical and neurological exams, videotaping of the patient's interactions with the study staff, and blood and urine collection for laboratory analyses will be performed at each San Diego visit. A family member or caregiver will be asked to complete a short assessment form and report any illness or medication changes. In addition, the study staff will have weekly telephone contact with the family to discuss any behavioral changes or study drug issues.
If the patient's self injurious behavior becomes worse after starting Kuvan the drug will be discontinued and the patient will be followed until the behavior returns to baseline.
259 studies on the registry are indexed under Self-Injurious Behavior; 95 are open to participants now.
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Exclusion Criteria:
10mg/kg Kuvan for 5 days followed by 20mg/kg Kuvan for a total of 60 days
Drug: sapropterin
oral 100mg tablets taken intact or dissolved in water or apple juice with morning meal for up to 60 days
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.
Time frame: Periodically during the eight weeks of treatment per patient
Effect of Kuvan on standard chemistries, plasma amino acids, and plasma and urinary catecholamines
Time frame: Assessed periodically during treatment
Ran from Apr 2009 to primary completion in Feb 2010, 10 months.
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This study is withdrawn, as verified in Jul 2019. You cannot join it, but the record below documents what was studied.
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Studies of the drug tested here: Sapropterin
University of California, San Diego →