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

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.

Completed

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Key information

Conditions

Lesch-Nyhan Syndrome Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease Attributes Genetic Diseases, Inborn Genetic Diseases, X-Linked Heredodegenerative Disorders, Nervous System Intellectual Disability Mental Disorders Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Neurobehavioral Manifestations Neurologic Manifestations Nutritional and Metabolic Diseases Pathologic Processes Pathological Conditions, Signs and Symptoms Purine-Pyrimidine Metabolism, Inborn Errors Rare Diseases Signs and Symptoms X-Linked Intellectual Disability

Age range

0 year and older

Sex eligibility

Male

Study type

Interventional

Phase

Phase 2

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

PROTOCOL ENTRY CRITERIA:

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

Treatment and study plan

aminomidazole carboxamide riboside

Drug

Sponsors and collaborators

Lead sponsor

National Center for Research Resources (NCRR)

Nih

Collaborators

University of California, San Diego

Registry information

Important dates

Study start: 1996
First posted: Oct 19, 1999
Registry last updated: Jun 24, 2005

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed