News

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.

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…

Theranexus and the Beyond Batten Disease Foundation (BBDF) have completed enrollment for a Phase 1/2 clinical trial testing Batten-1 — the partners’ revamped experimental therapy, solely containing miglustat — in adolescents and adults with juvenile Batten disease. This is “an important milestone in the development of Batten-1, a…

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…

Two young sisters who carry a unique combination of mutations in their CLN8 genes developed a mild, but atypical type of Batten disease, a case study reported. Both sisters had different mutations in each of their CLN8 genes — one from their mother and the other from their father,…

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,…

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…

CLN5 disease, a form of late infantile Batten disease, disrupts fatty molecule balance and autophagy (the waste disposal system of cells), and increases cellular susceptibility to a type of damage called oxidative stress, according to data from preclinical models of the disease. Also, many of the molecules whose levels…

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…