Phase II Pilot Study of Aminoimidazole Carboxamide Riboside (AICAR), a Precursor of Purine Synthesis, for Lesch-Nyhan Disease

National Center for Research Resources (NCRR)

Status and phase: Completed; Phase 2

Conditions: Lesch-Nyhan Syndrome

Treatments: Drug: aminomidazole carboxamide riboside

Study type: Interventional

Funder types: Other; NIH

Identifiers

NCT00004314

199/11823

UCSD-733

Details and patient eligibility

About

OBJECTIVES: I. Determine the effects of aminoimidazole carboxamide riboside (AICAR) on hematologic manifestations of Lesch-Nyhan disease.

II. Assess the behavioral and neurological benefits of AICAR in patients with Lesch-Nyhan disease.

III. Examine the effect of AICAR on purine production.

Full description

PROTOCOL OUTLINE:

After a 3-day baseline, patients are treated with aminoimidazole carboxamide riboside (AICAR) by continuous infusion for 12 days. Concurrent allopurinol and folate are allowed.

Sex: Male

Volunteers: No Healthy Volunteers

Inclusion and exclusion criteria

PROTOCOL ENTRY CRITERIA:

--Disease Characteristics-- Men with Lesch-Nyhan syndrome Moderate erythrocyte macrocytosis No active urinary tract disease or impaired renal function