Lindsey Shapiro, PhD,  science writer—

Longitudinal MRI imaging in naturally-occurring sheep models of CLN5 and CLN6 disease — two types of Batten disease — revealed early and progressive brain volume loss, a study showed. A feature of this atrophy was the loss of gray matter and an increase in volume of the cerebrospinal fluid…

Both of Regenxbio‘s gene therapy candidates for neuronal ceroid lipofuscinosis type 2 (CLN2) disease, also known as late infantile Batten disease, have advanced to in-human testing, the company reported. These clinical trials will evaluate the one-time experimental gene therapies in patients with the inherited disease, which typically occurs…

Female mice with Batten disease caused by a mutation in the Cln8 gene had greater disease severity, including worse behavioral deficits and a shorter lifespan, than their male counterparts, a study has found. These female mice also had more activation in the brain of microglia, a type of cell that drives…

A cardiac MRI helped identify heart involvement in a 16-year-old boy with juvenile Batten disease, also known as CLN3 disease, a study showed. Researchers were able to detect abnormalities in his heart’s myocardium, or muscle layer, indicative of cardiac involvement. “The clinical use of cardiac MRI should be considered…

Activation of a type of channel called TPC2 may restore more normal lysosome function, offering a potential therapeutic approach for Batten disease and others marked by impairment of those cellular compartments, a study suggested. When a cellular model of juvenile Batten disease was treated with a compound designed…

A targeted epilepsy genetic testing program enabled more children to receive a diagnosis of ceroid lipofuscinosis type 2 disease (CLN2) — and in less than half the time it typically takes, a study reported. In fact, children in the testing program with CLN2 disease were diagnosed, on average, less…

Genetic testing enabled a diagnosis of ceroid lipofuscinosis type 2 disease (CLN2) in six young children with symptoms that included seizures, motor disturbances, and language delays, while 37 other children with similar symptoms were given different diagnoses, according to a recent study. The findings support the use of genetic…