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

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

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
Neurodegenerative Diseases
Neurologic Manifestations
Purine-Pyrimidine Metabolism, Inborn Errors processed this record on November 24, 2015