Marisa Wexler, MS, senior science writer —

A treatment using stem cells modified to produce PPT1 — the missing enzyme in infantile Batten disease — prevented symptoms from developing and substantially extended survival in a mouse model of the disease, a study reports. It also prolonged survival and slowed disease progression when given to mice that…

The levels of abnormal storage material inside certain immune cells could be used as a biomarker of disease activity and response to treatment with late infantile Batten disease, or CLN2 disease, a new study shows. Data showed that over three years of treatment with Brineura (cerliponase alfa) —…

Theranexus and Inserm Transfert have entered an agreement to work toward the development of treatment candidates for neurological disorders such as Batten disease, the two companies announced. “This flagship agreement is perfectly in line with our strategy to develop medicinal products blocking the progression of rare neurological diseases…

Levels of fatty molecules called glycerophosphodiesters, or GPDs, are elevated in the blood and other bodily fluids of people with juvenile Batten disease — and may be a useful biomarker for diagnosing or treating the inherited disorder — a new study revealed. This finding “raises the potential to use…

The CLN3 protein, defects of which cause juvenile Batten disease, is needed for the breakdown and clearance of the fat molecules used to make cell membranes, a new study reveals. The study, “CLN3 is required for the clearance of glycerophosphodiesters from lysosomes,” was published in Nature.

An experimental enzyme replacement therapy (ERT) — one injected directly into the brain — was found to lessen motor dysfunction and nerve cell death in mouse and sheep models of infantile Batten disease, a new study reports. Collaborations Pharmaceuticals, known as CPI, recently received nearly $3 million…

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,…

Drinking acidified water prevented motor impairment and decreased the toxic accumulation of molecular debris in brain cells in a mouse model of CLN1 disease, also called infantile Batten disease, a recent study reports. “In this study, we demonstrated that acidified drinking water had beneficial effects in … a mouse…

Children with late infantile Batten disease on approved enzyme replacement therapy show signs of age-related degeneration in the light-sensing part of the eyes, a new study shows. The study, “Ongoing retinal degeneration despite intraventricular enzyme replacement therapy with cerliponase alfa in late-infantile neuronal ceroid lipofuscinosis type 2…

Six months of treatment with cannabidiol (CBD) reduced brain inflammation in a mouse model of infantile Batten disease, but did not affect the frequency of seizures or the survival of nerve cells, a new study reports. Given the severe symptoms that typically characterize this subtype of Batten disease,…