A gene therapy called ABO-202 that is being developed to treat Batten disease has just been granted Orphan Drug Designation by the European Medicines Agency (EMA), reports BioPortfolio. This follows the decision of the U.S. Food and Drug Administration to award ABO-202 with an Orphan Drug Designation in America.
Batten disease, also known as neuronal ceroid lipofuscinosis, is a rare autosomal disorder that primarily affects children. It is believed to affect approximately three out of every 100,000 children in the US. Early symptoms of the condition tend to appear between the ages of five to ten years old, and may include vision issues and seizures. However, the signs can also be subtler, such as increased clumsiness, personality changes, and delayed learning. As the disease progresses children may suffer from more severe seizures, vision loss, cognitive impairment, worsening motor skills, and ultimately reach a vegetative state before an early death. The underlying cause of these symptoms is changes to certain genes that then malfunction. This results in a toxic build up of lipofuscin (a mixture of fats and proteins) in body tissues such as the brain, eyes, skin, and muscle, amongst others.
The treatment options currently available for the disease focus on limiting the symptoms. They include anti-seizure medications, drugs to improve muscle function, and physical therapy to help patients retain their movement ability. The potential new gene therapy being developed by Abeona Therapeutics attempts to go further than these current options by treating the genetic cause of the disease. The therapy uses a virus to carry a functional copy of the mutated gene, CLN1, into the body cells. This newly introduced functional gene can carry out the tasks that the mutated gene is unable to do, including producing the enzymes that break down the toxic build up of lipofuscin that are responsible for the disease symptoms.
Early studies of the gene therapy have shown promising results. A trial on mice found that the drug improved survival, the functioning of muscles, and behavior. Furthermore, it could be administered using an injection or an IV. A combination of both of these methods was found to improve the treatment outcome when the disease was at a later stage.
