The first major breakthrough for Canavan came when it was discovered to be a disease. The fact that it could be identified that a certain group was prone to carrying on this disease from generation to generation went a long way in helping people understand the causes and actions to be taken to ensure the incidences were down to a minimum.
Then, because of research, the gene was identified. Thanks to this, there can be pre-natal tests and screening done to determine who is at a high risk and to enable them to take informed and practical decisions, rather than have to go through with the trauma of bearing a child with this disease.
Let us take a look at the research that is going on in this area today. The main thrust is to find a cure. Being an incurable disease, there are so many children who have suffered and died in its throes. Towards this end, researchers and scientists are busy observing animal models so that they can see the direction they have to go in to find a cure. They have specially developed animal models to test their strategies.
These researchers today get grants to pursue their work so that there is hope for a cure to be discovered in the near future. The broad based research also includes studies that focus on genes and genetic diseases and how genetic mutations come about. In this case, it also encompasses the functions of the brain and the nerve cells to better understand the disease.
Of the many approaches, there are three that merit a mention. The first is through gene therapy which has proved to be very successful in mice. Here, the child will have the healthy gene injected into the brain in order to prevent and reverse the damage that has been done by the mutated gene.
It is the Aspa gene (aspartoacylase) that is responsible for the efficient functioning of the nerve cells in the brains and when there is a problem with this as in the case of Canavan disease sufferers, it causes untold damage to the brain and because of that to all the bodily functions.
The second course of action is to inject the neurons themselves into the brain because when there is an increase in neurons, it means that Aspa can be made. The breakdown of the myelin sheath in the brain is what causes the neurons to malfunction so a healthy dose of neurons seems to be helping.
The third area that is being researched is whether there will be an alleviation of the problem when the fluid in the brain is drawn out. The damage to the myelin results in a spongy mass with fluid filled pockets which makes the head swell and get unmanageably larger. With this fluid being decreased, it is hoped that the ensuing swelling and resultant damage can be minimized. This can be done physically or there could be medicines given to decrease the fluid build up.
Right now, there are a couple of studies going on – one in which triacetin has showed to be beneficial and the other in New Jersey where 6 catheters are inserted into the brain with a virus that resembles and is intended to replace Aspa. There have been babies who have been administered this treatment and there does seem to be improvement.
There is a lot of research in the pipeline and with every advancement, there is hope in the hearts of many who either have children afflicted with Canavan or those who are carriers and hope to have their own children someday without this horrible sword of genetic inherited disease hanging over them.