Researchers have discovered a new naturally occurring nonhuman primate model of late-infantile Batten disease, or CLN2 disease. The primates, all of whom had a mutation in the CLN2 gene — the known cause of late-infantile Batten — also exhibited signs of the human condition including motor dysfunction, brain tissue atrophy, neuroinflammation,…

Mutations in the gene KCTD7, known to cause a rare form of Batten disease, lead to the excessive accumulation in cells of a protein called CLN5, which may be an important target for treating the disorder, researchers said. Defects in CLN5 are known to cause other types of Batten disease,…

My sister, Taylor, was diagnosed with CLN1 disease on a hot summer day in 2006, during the “Dark Ages” of Batten disease research, before we knew much about symptom management. So, when the geneticist who confirmed the diagnosis told my parents that doctors couldn’t do anything to help the bright-eyed…

New guidelines from the U.S. Food and Drug Administration (FDA) may make it easier to develop therapies to treat extremely rare diseases, such as Batten disease. “The release of this guidance from the FDA is a first step and a very welcome one. It speaks to the promise…

If she were still alive, my younger sister would have celebrated her 22nd birthday today. Instead, Taylor died from CLN1 disease (Batten disease) in September 2018, more than 12 years after her diagnosis. Long before I said goodbye to my sister, I knew all of the work our charity,…

Signs of mild atrophy, or shrinkage, in certain areas of the brain, including the cerebellum — a region involved in balance and movement control — should prompt diagnostic tests for late infantile Batten disease, an Australian study suggests. These features may help physicians to identify the inherited…

ABO-202, Abeona Therapeutics‘ investigational candidate for the treatment of infantile Batten disease has received orphan drug status by the European Medicines Agency. This new status adds to the previously granted orphan drug and rare pediatric disease designation by the U.S. Food and Drug Administration. These designations are…