Batten Disease Research
What is Batten Disease?
Batten Disease is the most commonly known of a group of rare disorders called Neuronal Ceroid Lipofuscinoses (NCLs), in which there is a defective gene that leads to a build-up of lipopigments (fats and proteins) in the brain's nerve cells and other tissues. There are four main types of NCLs and each is characterized based on the age of diagnosis. Batten Disease refers specifically to juvenile onset, yet this term is now widely used to refer to any NCLs.
Although the exact mechanism is uncertain, the lipopigments which accumulate in Batten Disease patients are believed to lead to neuronal death in the brain, retina and central nervous system. Diagnosis is confirmed by the presence of the lipopigments.
Current Standard of Care
At the present time, there are no currently approved therapies to treat Batten Disease. Physical therapy may help a patient retain function.
Research and Development for Batten Disease
Research for Batten Disease is ongoing at academic research centers and at the National Institutes of Health (NIH).
In January 2007, a clinical study sponsored by the National Institute of Child Health and Human Development was initiated to study the potential effectiveness of cysteamine in treating Batten Disease patients. This study is currently recruiting patients.
Raptor plans to study DR Cysteamine in patients with Batten Disease.