Lindsey Shapiro, PhD, science writer —

The Batten Disease Support and Research Association (BDSRA) Australia has announced the three winners of its 2022 Batten Disease Research Grant Program in Australia and New Zealand. Open annually since its inception in 2020, the program’s goal is to support local research that furthers the understanding of…

Structural and functional changes in the retinal pigment epithelium (RPE) — a cell layer in the eye that nourishes the light-sensing cells — may be behind the progressive vision loss seen in juvenile Batten disease, or CLN3 disease, according to a recent study. Using lab-grown patient-derived and healthy RPE…

Some cases of Batten disease may present with clinical features of Rett syndrome, including Rett’s hallmark repetitive hand movements, according to a recent case report concerning two young girls. Features that helped distinguish Batten disease in these girls included vision loss, early brain shrinkage (atrophy), and evidence of…

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…