Batten disease is an inherited lysosomal storage disorder characterized by a buildup of waste products inside cells, which interfere with normal cellular function and eventually lead to cell death.
Symptoms of Batten disease include seizures, loss of vision, changes in personality, dementia, and loss of mobility. The disease is very serious, and no cure exists yet; however, several treatments are available or being developed that might ease symptoms.
Enzyme replacement therapy
The only treatment approved by the U.S. Food and Drug Administration to treat Batten disease is Brineura (cerliponase alfa), an enzyme replacement therapy designed to slow the loss of walking ability in children with a type of Batten disease called CLN2. This treatment replaces TPP1, the enzyme that is mutated in this type of Batten.
Anti-convulsants
One of the symptoms commonly seen in all forms of Batten disease is epilepsy or seizures. These seizures can sometimes be controlled or reduced using anti-convulsant therapies, such as valproic acid and lamotrigine, alone or in combination with clonazepam. These work by reducing the brain activity that causes convulsions.
Other anti-convulsant therapies that may be prescribed include carbamazepine, oxcarbazepine, and phenytoin.
Immunosuppressants
Immunosuppressive treatments for Batten disease have shown some promise in preclinical studies, but many of these are not recommended for use in children, especially long term. One immune suppressant that has been approved for use in children is CellCept (mycophenolate mofetil).
Experimental therapies
Gene therapy could be a treatment for Batten disease in the form of permanent enzyme replacement. Giving patients an injection of a modified virus that inserts a functional copy of the mutated gene into their cells could “heal” the diseased cells.
Stem cell therapies are another potentially viable treatment option. They involve transplanting healthy human stem cells into the cerebrospinal fluid, the fluid that surrounds the brain and spinal cord. Donor cells could slow or halt the progression of Batten disease. Like an organ transplant, stem cell transplants would require immunosuppressive treatments to prevent rejection of donor cells.
Other experimental treatments include PLX-200, a therapy that increases the expression of an enzyme lacking in Batten disease, and PLX-100, which is a combination of PLX-200 and retinoic acid.
Other therapies
Other therapies that may improve patients’ quality of life and mobility. These include physiotherapy and occupational therapy, and speech therapy.
Some studies have indicated that treating children with vitamins C and E, in combination with diets low in vitamin A, could delay the onset of Batten disease, but not change the outcome. Patients often die when they reach their late teens or 20s.
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