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.
What are the best treatments for the behavior problems? What are the best treatments for the neuromotor problems? Are these treatments the same, or are they different? An important goal of clinical research is to find new treatments that are useful in Lesch-Nyhan disease.
The simplest method for finding new medications is to get medications from your local doctor, or try them on your own. This is very easy to do, but it is not a very efficient way to find good medications. And some medications could be dangerous. Many people with Lesch-Nyhan disease will waste their time trying the same useless medications as others have tried. Some medications may cause bad side-effects. Because Lesch-Nyhan disease is so rare, few families and few doctors have enough experience to know what should be tried and what should be avoided. Unless there is a central source for information on what worked and what did not, the many experiences of many people all over the world is lost.
The best way to avoid a situation where everyone keeps trying the same things is to perform a clinical trial involving many people with Lesch-Nyhan disease. By counting how many people benefit and how many people get side-effects, it is possible to say if the treatment is really useful. If a new treatment is found to be useful, the information will spread fast. Finding out that a treatment does not work is almost as important as finding out that it does work. If everyone knows that a treatment does not work, then others will not have to try it themselves.
Clinical research involving treatment trials is important to find definitive answers. Many people and families with Lesch-Nyhan disease are suspicious of these trials. Othes are pessimistic and decide the medication is not going to work before they try it. They say "we've tried everything already, and nothing works". But treatment trials cannot succeed without people with Lesch-Nyhan disease helping them. Don't give up in the search for a cure!
Brain scans, such as MRI and CT, are used to get a picture of what the brain looks like. They are often normal in Lesch-Nyhan disease. In some cases, portions of the brain may appear smaller than normal. Because the brain scans are usually normal, they are not used for diagnosis of the disorder.
On the other hand, brain scans, such as PET, are used to get a picture of how the brain is working. PET scans have shown a problem with a region of the brain called the basal ganglia. Exactly what is going on in this region is not yet understood. These scans have been valuable for telling us what area of the brain we must look into more carefully, but the scans can't give us all the answers. In some cases, researchers need to look into the brain directly, as described in the next section.
Researchers who want to learn what is going on in the brain of someone with Lesch-Nyhan disease can only learn so much from brain scans. Sometimes, they need to look into the brain directly. This has been made possible by people and their families who donated a brain for research. Of couse you can not donate your brain while you are alive! People who donate brains recognize that their very generous donation cannot help the person donating it, but might help the other people still living with the condition.
Any family considering this type of donation should talk it over with their child. It is surprising how many people with Lesch-Nyhan disease want to donate their brains when they learn that they might be able to help someone else even after they die. One boy said he thought he probably would not need his brain anymore after he died, and he did not want it to go to waste!
Any families who might want to plan for a donation to help find answers should contact the director of the Lesch-Nyhan Brain Bank for more information. This bank currently has three brains to help with research, and it is growing.
What is the best way to diagnose Lesch-Nyhan disease? What is the best way to tell if an infant or young child will get the full disease, or a milder variant form of it? Once a is child is diagnosed, what is the best way to find out if his mother or sisters are silent carriers?
Researchers across the world use several different tests for each of these purposes. All of the tests seem to work, and different researchers like different tests. Are they all right, or is there a best test?
The answer to these questions requires that the tests be compared. This is why many doctors ask for more than one test. As experience grows, we will develop a better idea of which tests might be best for which problems.