An important goal of clinical research is to find new and better treatments for Lesch-Nyhan disease. Currently, there are a few medications available. Each of these helps a little bit, but none is perfect. Looking for new medications is an active area of clinical research. One way to find new medications is to try new ones. But which ones should be tried? And for how long? And what doses? Read more in the section on Treatment Trials!
Another important goal of clinical research is to try to understand what is going on in the brain that causes the problems of Lesch-Nyhan disease. If we can understand what is going on in the brain, we might be able to devise treatments to correct it. To do this, it is sometimes necessary to look at the brain. This can be done with certain brain scans. It can also be done with directly with brain samples. Read more about this type of research in the sections on Brain Scans and Brain Samples.
Biochemical and genetic studies have provided some interesting clues regarding why some people with Lesch-Nyhan disease are severely affected, while others are not. Studying the biochemistry and genes of people who are only mildly affected is important for learning what has protected them. If we can understand what has protected them, we might be able to use the information to protect others. Read more about this in the section on Diagnostic testing.