Welcome

Lesch-Nyhan disease is a rare condition that affects children at a very young age. Children with this disease get kidney stones, they cannot control their muscles, and they develop an irresistible urge to try to hurt themselves. This site provides a resource for information about the disease. Sections include information on what is currently known about the disease, how it is diagnosed, what treatments are available, what''s new in research, and where to go for help.

The content is written for eveyone, at all levels of experience. Each section starts with general information that is written for patients, family members and caretakers. More detailed information, intended for physicians and researchers, can be accessed via submenus and links from the introductory section.

Volunteers are needed for a study concerning the treatment of Lesch-Nyhan Disease

Currently there are no medications approved for the treatment of Self-Injurious Behavior in Lesch-Nyhan disease. Six male subjects are needed to be studied in an inpatient setting. Eligible subjects have to have moderate to severe Self-Injurious Behavior and are routinely restrained.

The purpose of the current study is to determine the maximum tolerated dose of ecopipam and is it useful for the control of self-injurious behavior.

You may volunteer if you have a diagnosis of Lesch-Nyhan disease with Self-Injurious Behavior that is bad enough to require restraints, are at least 6 years old and not taking medication for depression or seizures.

The principle investigator conducting the study at Emory University is Dr. H. A. Jinnah, M.D., Ph.D. If you are interested, please call the study coordinator, Barbara Sommerfeld, R.N., M.S.N. at 404-728-6944 (USA).

This website is currently under construction, and content will be continuously updated and added. If you have suggestions or comments, do not hesitate to contact the authors.