Ana Pena, PhD,  —

Roche’s CellCept was safe, but lacked clinical benefits, during short-term use by patients with CLN3 disease, according to the results of a Phase 2 clinical trial. The study, “Short-Term Administration of Mycophenolate Is Well-Tolerated…

Neuron-like cells derived from a Batten patient’s skin cells may be a suitable way of investigating the mechanisms behind the disease — and of being able to test ways of possibly treating it, researchers report. Their study “Induced Pluripotent Stem Cells Derived…

Therapeutic approaches that target production of a protein called progranulin in specific brain cells may help preserve brain function in Batten disease, according to a mouse study. The study, “Conditional loss of progranulin in neurons is not sufficient to cause neuronal ceroid lipofuscinosis-like neuropathology in mice…

Research into the CLN3 protein, whose nonfunctional form underlies juvenile Batten disease, may be compromised by the use of unreliable antibodies that lack specificity, researchers suggest. The study, “Lack of specificity of antibodies raised against CLN3, the lysosomal/endosomal transmembrane protein…

Several compounds were able to correct defects in the brain caused by juvenile neuronal ceroid lipofuscinosis (CLN3) in both cellular and mouse models, uncovering potential therapeutic candidates for treating the disease. Because some of these compounds are already approved…

Chinese researchers used an advanced genetic sequencing technique to identify two new pathogenic variants of the CLN8 gene in a boy with suspected neuronal ceroid lipofuscinosis (NCL), or Batten disease. Molecular diagnosis was delivered within three weeks, demonstrating the advantages of using genome sequencing for providing fast and…

Gene therapy directly targeting a specific type of neuron in the retina of the eye was able to prevent vision loss in late infantile Batten disease caused by rare CLN6 genetic mutations in mouse models of the disease. The study, “…