Batten disease is a serious inherited disease characterized by vision loss, seizures, dementia, and loss of motor control. The disease is caused by mutations in genes encoding for proteins that handle waste disposal in the cell. These mutations result in a buildup of waste products called lipofuscins, which interfere with normal cellular function and can cause cell death.
Although there is no cure for Batten disease, there are several treatments that can help reduce symptoms of the disease and improve patients’ quality of life. One treatment option is immunosuppressant therapy.
Batten disease and inflammation
Some studies suggest that certain symptoms of Batten disease could be caused by an autoimmune response, in which the patient’s immune system attacks the body’s own tissues, causing cell death. The immune system mistakenly attacking nerve cells may lead to neurodegeneration as the disease progresses.
Immunosuppressants are treatments that make the immune system less sensitive to threats, by either “turning off” the expression of genes that cause inflammation, or by directly killing some of the immune cells. However, many immunosuppressants are not approved for use in children and the most common types of Batten disease occur in children.
One immunosuppressant that has been approved for use in children is Cellcept (mycophenolate mofetil). Pre-clinical studies with immunosuppressants have shown promising results, including a reduction in nerve cell death and a reversal of motor problems in animal models. A Phase 2 clinical trial (NCT01399047) has been completed in juvenile-onset Batten disease patients with Cellcept, but results of the study have not yet been published.
Immunosuppressants in combination with other therapies
Another treatment for Batten disease that is still in the experimental stage is stem cell transplants. In this therapy, healthy donor stem cells are injected into the cerebrospinal fluid (the fluid that surrounds the brain and spinal cord). The donor cells do not contain the Batten-causing mutation, and therefore may be able to compensate or replace the nerve cells that are affected by the disease.
Stem cell transplants also must include immunosuppressants to prevent rejection of the donor cells by the patient’s immune system, much like in an organ transplant.
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