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

This study has been completed.
University of California, San Diego
Information provided by:
Office of Rare Diseases (ORD) Identifier:
First received: October 18, 1999
Last updated: June 23, 2005
Last verified: January 2000

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.

Condition Intervention Phase
Lesch-Nyhan Syndrome
Drug: aminomidazole carboxamide riboside
Phase 2

Study Type: Interventional
Study Design: Primary Purpose: Treatment

Resource links provided by NLM:

Further study details as provided by Office of Rare Diseases (ORD):

Estimated Enrollment: 2
Study Start Date: February 1996
Detailed Description:


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.


Genders Eligible for Study:   Male
Accepts Healthy Volunteers:   No


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

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Please refer to this study by its identifier: NCT00004314

Sponsors and Collaborators
National Center for Research Resources (NCRR)
University of California, San Diego
Study Chair: Bruce Barshop University of California, San Diego
  More Information

Page T, Barshop BA, Yu A, et al.: Treatment of Lesch-Nyhan syndrome with AICAR. In: Sahota A, Tayor M, eds.: Purine and Pyrimidine Metabolism in Man VIII. Plenum Press, New York, NY: 1995, pp 353-356. Identifier: NCT00004314     History of Changes
Other Study ID Numbers: 199/11823  UCSD-733 
Study First Received: October 18, 1999
Last Updated: June 23, 2005
Health Authority: United States: Federal Government

Keywords provided by Office of Rare Diseases (ORD):
Lesch-Nyhan syndrome
inborn errors of metabolism
neurologic and psychiatric disorders
rare disease

Additional relevant MeSH terms:
Mental Retardation, X-Linked
Lesch-Nyhan Syndrome
Brain Diseases
Brain Diseases, Metabolic
Brain Diseases, Metabolic, Inborn
Central Nervous System Diseases
Genetic Diseases, Inborn
Genetic Diseases, X-Linked
Heredodegenerative Disorders, Nervous System
Intellectual Disability
Metabolic Diseases
Metabolism, Inborn Errors
Nervous System Diseases
Neurobehavioral Manifestations
Neurologic Manifestations
Purine-Pyrimidine Metabolism, Inborn Errors processed this record on May 30, 2016