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

This study has been completed.

First Received: October 18, 1999 Last Updated: June 23, 2005 History of Changes

Sponsor:	National Center for Research Resources (NCRR)
Collaborator:	University of California, San Diego
Information provided by:	Office of Rare Diseases (ORD)
ClinicalTrials.gov Identifier:	NCT00004314

Purpose

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 II

Study Type:	Interventional
Study Design:	Treatment

Resource links provided by NLM:

Genetics Home Reference related topics: L1 syndrome Lesch-Nyhan syndrome succinic semialdehyde dehydrogenase deficiency

U.S. FDA Resources

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

Estimated Enrollment:	2
Study Start Date:	February 1996

Detailed 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.

Eligibility

Genders Eligible for Study:	Male
Accepts Healthy Volunteers:	No

Criteria

PROTOCOL ENTRY CRITERIA:

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

Contacts and Locations

Please refer to this study by its ClinicalTrials.gov identifier: NCT00004314

Sponsors and Collaborators

National Center for Research Resources (NCRR)

University of California, San Diego

Investigators

Study Chair:

Bruce Barshop

University of California, San Diego

More Information

Publications:

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.

Page T, Barshop B, Yu AL, Nyhan WL. Treatment of Lesch-Nyhan syndrome with AICAR. Adv Exp Med Biol. 1994;370:353-6. No abstract available.

Study ID Numbers:	199/11823, UCSD-733
Study First Received:	October 18, 1999
Last Updated:	June 23, 2005
ClinicalTrials.gov Identifier:	NCT00004314 History of Changes
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:

Disease
Metabolic Diseases
Nervous System Diseases
Central Nervous System Diseases
Brain Diseases
Neurodegenerative Diseases
Purine-Pyrimidine Metabolism, Inborn Errors
Mental Retardation
Metabolism, Inborn Errors
Pathologic Processes

Heredodegenerative Disorders, Nervous System
Genetic Diseases, Inborn
Lesch-Nyhan Syndrome
Syndrome
Genetic Diseases, X-Linked
Neurologic Manifestations
Brain Diseases, Metabolic, Inborn
Mental Retardation, X-Linked
Neurobehavioral Manifestations
Brain Diseases, Metabolic

ClinicalTrials.gov processed this record on November 09, 2009