Did you ever wonder what it took to develop a treatment for a new disease? Let’s take the relatively new disease family of the creatine deficiency syndromes and talk about that. These three diseases are a family of diseases where the brain lacks creatine and leads to profound mental retardation. Two of the diseases are treated by giving creatine, but one disease is not at all treated if creatine is taken. The two diseases caused by defects in the enzymes synthesizing creatine means the whole body lacks creatine, so it can only be obtained in the diet and with sufficient creatine in the diet the diseases are largely treated.
If the creatine deficiency is caused by a defect in the protein that transports creatine into the brain the body makes and has creatine, but it is not getting into the brain’s cells that need it. So treating with oral supplementation of creatine in the diet does not work. Treating a disease is never simple. Even with the synthesis disorders creatine is a great treatment but there can be a buildup of some toxic metabolites so other complexities come into play.
Concerning the creatine transporter deficiency trying to treat it is very difficult. For a drug to do its job as a creatine transporter deficiency syndrome it needs to cross the blood brain barrier, the membranes of the individual cells, the mitochondrial membrane and eventually interact with mitochondrial creatine kinase and cytosolic creatine kinase.
That means a drug must cross three different biological barriers (membranes) and work on two different enzymes (proteins) to be an effective treatment. Most drugs only have to perform one role but a drug to treat these patients must do multiple things. But it should do those multiple things where they are needed, like in the brain, but be safe in other tissues. Designing this new drug will take a lot of work and will need to be thoroughly tested.
Most people, most doctors, and many scientists do not realize how hard it is to design, test and distribute a new drug. It takes time and it takes dedicated people to be successful at this.
So, that is the bad news. The good news is that we have assembled; chemists, biochemists, neuroscientists, neurologists, and experienced drug developers to design and tests drugs to treat the creatine transporter deficiency. As said in previous blogs, we already developed the definitive animals with the disease needed to validate the drugs and we are making progress on treatments. If you have a family member or patient with one of the creatine deficiency syndromes, especially the creatine transporter deficiency, please join our facebook group (https://www.facebook.com/?ref=home#!/home.php?sk=group_127389967322193&ap=1) where we will keep people apprised of our latest research and development.