What is Batten Disease and Who is affected by the disease?

Page content

Spielmeyer-Vogt-Sjogren-Batten disease, which is otherwise known as Batten disease, is a particular form of neuronal ceroid lipofuscinosis that takes place in children. Neuronal ceroid lipofuscinosis, or NCL, is a general term for a number of diseases in which the functions of the brain and spinal cord are gradually lost. The condition is medically known as a neurodegenerative disorder.

Batten disease is hereditary and it manifests when children are born with two copies of a defective recessive gene they inherit from their parents. A person who has a single copy of the defective gene will not suffer from Batten disease but becomes a carrier of the disease. Thus, when two carriers have a child, that child has a 1:4 chance of acquiring both copies of the defective gene and developing Batten disease. The child also stands a one in two chance of getting a single copy of the gene and becoming a carrier himself/herself.

Indications normally show from the ages of 4 to 10, beginning with problems in vision accompanied with seizures. Pernicious alterations in personality, slow learning, clumsiness and stumbling will also be seen. These symptoms will slowly worsen over time, rendering the child severely handicapped. Since indications of Batten starts with vision problems, opticians and ophthalmologists are usually the first ones to suspect it when they detect a loss of eye cell in children. They in turn refer the child to a neurosurgeon for advanced tests. Research is ongoing, and the cause of Batten disease is connected to a buildup of lipopigments in the body’s tissues. Batten disease sufferers fall short of enzymes to break these lipopigments down and a collection of these in brain cells leads to the aforementioned symptoms.

Diagnosis Method

The most common diagnosis method of Batten disease are through skin or tissue sampling, an electroencephalogram (EEG), blood or urine tests, brain scans, and electrical studies of the eyes.

Sadly, no cure for Batten disease has been found yet. There are some ways of dealing with the symptoms of the disease, such as controlling seizures with anti-epileptic drugs and utilizing physical, speech, and occupational therapies to help affected patients function in their day to day lives for as long as possible.

Several families who are victims of Batten disease have joined together under the Nathan’s Battle Foundation to finance a clinical trial for using gene therapy. Pioneered at Cornell University’s Weill Medical College, this trial drew in argument when one of the children died bringing the entire trial to a halt. It was later discovered that the child’s death was not due to gene therapy and the trial restarted. Unfortunately, as of yet, there are no indications of reversing the effects of Batten disease but the results of this trial are promising so far. NCL Gene Therapy Transfer has been shown to either halt or slow down the process of neurological degeneration brought about by Batten disease. The Nathan’s Battle Foundation is currently engaged in fund-raising activities to raise enough money to embark on a second-generation gene-therapy trial.

Trials have also shown that Cystagon, a drug used to treat a rare genetic disease affecting the kidneys, may be useful in treating Batten disease when used in conjunction with other drugs. Similarly, the painkiller Flupirtine has also displayed some abilities in slowing down the progress of Batten disease. Immunosuppressant medications have been suggested as a possible way to slow Batten disease and funding is currently sought to start a clinical trial. Stem-cell therapy is another avenue for possible treatment of Batten disease. A Phase-1 clinical trial is currently underway in Oregon and is sponsored by StemCells, Inc.

It must be remembered that all the treatments listed above are still highly experimental and none are widely accepted in the medical community as definite cures. For more information on Batten disease and fundraising efforts to find a cure please visit the Nathan’s Battle Foundation or the Batten Disease Support and Research Association. Recent research can be located here.