Through the work of several scientific teams in different countries, the search for the genetic cause of NCLs is gathering speed.
We have moved into the next decade of research since the first breakthrough of isolating the infantile gene.
Some scientists are investigating the theory that children with Batten disease have a shortage of a key body enzyme. Investigators are searching for enzymes that might be scarce, defective, or completely missing. Many animal models are available to researchers now, such as dogs (used in Australia), cow (used in Australia), sheep (used in New Zealand), fly, worm, fish and mice.
Overall, while many scientists are still trying to discover the whys of Batten Disease, several others are forging ahead developing treatments.
Trials of treatments are a reality …. Stem Cell transplants and Gene Therapy. For more information regarding these trials, please visit the BDSRA, USA via our Contacts page. Both these trials are dependent upon public funding and support.
When looking at therapeutically treating Batten Disease, gene therapy and stem cell trials are being carried out for children (in America) with the infantile and late infantile forms of Batten Disease and for the first time in 180 years they may be able to do something about the Juvenile form of Batten Disease with a drug. This research study will focus on evaluating whether an investigational drug is safe and well tolerated in children with JNCL. Mycophenolate mofetil (also known as Cellcept) is a medication that suppresses the immune system.
Keep up-to-date on research activity by visiting http://www.bdsra.org/research/clinical-news/