Joana Carvalho, PhD, managing science editor —

CLN3, the protein missing in people with juvenile Batten disease, is needed for a cellular process normally taking place in the retina that works to maintain the specialized cells needed for sight, a study reports. According to its researchers, these findings aid in understanding the cellular and molecular mechanisms…

AT-GTX-502, Amicus Therapeutics’ investigational gene therapy for juvenile Batten disease, has been well-tolerated and is showing a potential to stabilize early signs of the disease in children and infants. These are the initial findings of a first Phase 1/2 trial (NCT03770572) investigating the safety and efficacy of…

Small vesicles naturally produced by certain types of immune cells may be used as carriers to deliver TPP1 — the enzyme missing in patients with late infantile Batten disease — to the brain, a mouse study has found. If implemented in future therapies, this strategy could allow for more…

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…

A reduction in the ability of the CLN6 protein to prevent other proteins from clumping together and forming aggregates can account at least partially for the development of some forms of CLN6 disease. The study with that finding, “Implications of graded reductions in CLN6’s anti-aggregate activity forthe development…

Brineura (cerliponase alfa), the first and only approved treatment for CLN2 disease, or late infantile Batten disease, is effective in delaying motor and language decline in children with the disease, a review suggests. The review study, “Review of Cerliponase Alfa:…

Scientists have identified a series of proteins that may be useful biomarkers of disease progression for different types of Batten disease. The study, “Analysis of brain and cerebrospinal fluid from mouse models of the three major forms of neuronal ceroid lipofuscinosis reveals changes in the lysosomal proteome,”…

Treatment with a type of complex fat molecule called galactosylceramide increased lifespan, improved behavioral outcomes and eased neuronal loss in a mouse model of juvenile Batten disease, a study reports. The results, “Exogenous Galactosylceramide as Potential Treatment for CLN3 Disease,” were published in the Annals of Neurology.

A one-time treatment with an investigational gene therapy prolongs the lifespan in a mouse model of CLN6 disease, and ameliorates motor, learning, and memory impairments, a study shows. The therapy’s safety and efficacy is currently being evaluated in a Phase 1/2 trial (NCT02725580) in…

Brain-directed gene therapy is a feasible therapeutic strategy to prevent neurodegeneration associated with CLN6 disease, a mouse study says. The findings of the study, “Neonatal brain-directed gene therapy rescues a mouse model of neurodegenerative CLN6 Batten disease,” were published in bioRxiv. Neuronal ceroid lipofuscinoses (NCLs), also…