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.

Also, in 1995, scientists in Finland announced the identification of the gene responsible for the infantile form of Batten Disease. The gene, CLN1, is located on Chromosome 1.

In September 1997, scientists at the Robert Woos Johnson Medical School and the Institute for Basic Research, NY, announced the identification of the gene for the "classic" Late Infantile form of Batten Disease/NCL. The gene, CLN2, is located on chromosome 11.

Scientists have also identified the gene responsible for Finnish Late Infantile (CLN5), variant Late Infantile (CLN6) and EPMR (CLN8). Research also continues toward identification of the gene for the adult form of Batten Disease/NCL, also known as Kufs Disease.

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.

Recent studies have shown a link between the Juvenile form and the body's autoimmune system. Although this link is not yet fully understood, it may eventually lead to a treatment.

Currently there are two drug trials underway for Infantile Batten Disease/NCL. Both trials are using a drug by the name of Cystagon. For additional information regarding this trial, contact BDSRA at 1-800-448-4570.