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Unfortunately, parents of children with LINCL cannot just take their children to their local hospital and receive treatment. Most “treatment” simply focuses on helping the child with symptoms, such as anti-seizure medications. Actual treatment for the disorder is in the developmental or “clinical trial” stage, but some very promising data have been presented in the literature.
Can you just give her the enzyme she is lacking? The short answer is yes, but it is generally believed that such a treatment would have little impact on diseases such as this. Another major barrier exits to this and other forms of treatment: getting the desired treating material across the blood-brain barrier (BBB). The BBB is a membrane that is designed to protect the brain from chemicals in the blood, while still allowing essential material to readily pass through it. It is composed of very tightly packed cells called endothelial cells. If a child with LINCL or other diseases were to receive enzyme replacement therapy (ERT) intravenously, the BBB would not allow the (bulky recombinant) enzymes to pass through it, yielding no therapeutic effect on the CNS. These enzymes could be directly injected into the CNS by injecting these into the cerebrospinal fluid (CSF), but this would have to be done quite often, as the enzymes would be used up without a permanent enzyme-producing factory that normal folks have.
Can you give her enzyme-producing factories? The short answer is again yes, which summarizes other therapeutic approaches. Changing the genetic makeup of the cells in her body or giving her other cells from a donor are two ways of doing just that. These approaches are called gene therapy and (stem) cell-based therapy, respectively. Very promising research is going on in both arenas, and a more detailed account of both will be provided on this website at a later time.
And for those people who are opposed to stem cell research, it should be emphasized here that much stem cell therapy is possible from stem cells derived from sources other than human embryos. One very promising therapy is derived from stem cells harvested from the umbilical cord, which is typically donated by mothers of full-term babies for this very purpose. These stem cells are then harvested from what is commonly discarded as medical waste.
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 identification 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.
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