What Research is Being Done?

Within the Federal Government, the focal point for research on Batten Disease and other neurogenetic disorders is the National Institute of Neurological Disorders and Stroke (NINDS). The NINDS, a part of the National Institutes of Health (NIH), is responsible for supporting and conducting research on the brain and central nervous system. The Batten Disease Support and Research Association and the Children's Brain Diseases Foundation also provide financial assistance for research.

Through the work of several scientific teams, the search for the genetic cause of NCLs is gathering speed
In September 1995, The International Batten Disease Consortium announced the identificatiion of the gene for the juvenile form of Batten Disease. The specific gene, CLN3, located on Chromosome 16, has a deletion or piece missing. This gene accounts for 73% of all cases of Juvenile Batten Disease. The rest are the result of other defects of the same gene.

Identification of the specific genes for Infantile, Late Infantile, Variant Late Infantile and Juvenile Batten Disease/NCL has led to the development of DNA diagnostics, carrier and prenatal tests.

Scientists have discovered that the Infantile and Late Infantile diseases are missing key lysosomal enzymes, i.e. Palmitoyl Protein Thioesterase 1 (PPT1) for Infantile and Tripeptidyl Peptidase 1 (TPP1) for Late Infantile. Knowing that these enzymes are missing is now leading to the development of gene replacement and stem cell transplantation therapies.

“This is one more step toward understanding the defect in the cells that causes this disease”

For the first time, scientists studying Juvenile Batten disease, have identified a defect in transport of the amino acid arginine in cells from affected children. The finding helps researchers understand how the disease develops and may lead to new ways of treating it.

“This is one more step toward understanding the defect in the cells that causes this disease,” says David A. Pearce, Ph.D., of the University of Rochester School of Medicine and Dentistry in New York, who led the study. The study was funded in part by the National Institute of Neurological Disorders and Stroke (NINDS) and appears in the December 1, 2005, issue of Human Molecular Genetics.*

For more news on research efforts see our Batten News page or check out the resources available on our Links page.

Ongoing Research Efforts

In addition to finding out which gene mutations are responsible for the various NCL's, and finding out what cell functions the particular genes control, researchers are also trying to find ways to treat and/or cure Batten Disease. Various different research groups are doing studies in different areas.

Currently, one group at Cornell University, with the assistance of the Nathans Battle Foundation is studying gene replacement therapy aimed at replacing the defective gene in children with Infantile and Late-Infantile Batten Disease. Clinical trials are underway in this study.

Stem Cells Inc. has just recieved approval to conduct the first ever human stem cell transplant trials. These trials are being conducted on children with INCL and LINCL as well. Stem cell therapy is being studied as a way to repair and replaced damaged cells in victims of many disorders such as Alzheimers, Parkinsons, MD, NCL and many others. This human clinical trial on victims of Batten Disease is a major step forward in this research.