News

Researchers have identified new cellular roles for the CLN3 protein, the loss of which is the cause of juvenile Batten disease, or CLN3 disease. The loss of CLN3 in cell cultures leads to improper trafficking of enzymes needed for the function of lysosomes, the cellular compartments responsible for degrading…

Researchers have discovered a new naturally occurring nonhuman primate model of late-infantile Batten disease, or CLN2 disease. The primates, all of whom had a mutation in the CLN2 gene — the known cause of late-infantile Batten — also exhibited signs of the human condition including motor dysfunction, brain tissue atrophy, neuroinflammation,…

Researchers have developed a mouse model of juvenile Batten disease that better reflects the survival outcomes of human patients, according to a new study. While mice without the gene that carries instructions for the CLN3 protein recapitulate many juvenile Batten features, these mice have milder disease and a much…

Treatment for up to six months with Batten-1 — Theranexus’ novel therapy for juvenile Batten disease — reduced nerve cell death and stabilized patients’ motor symptoms. That’s according to preliminary results from an ongoing Phase 1/2 clinical trial testing the experimental therapy. The results will be presented at the…

A mini pig model could be an effective way to examine brain changes to track disease progression in late infantile Batten disease, a study suggests. In addition, measuring changes in the size of specific brain regions may help identify response to potential treatments, researchers note. “Miniswine present a…

From sharing stories on social media — using hashtags like #BattenDay2023 and #BattenAdvocatesForACure — to wearing something orange this June 9 to participating in a 5K fundraising challenge, supporters globally are poised to mark this year’s International Batten Disease Awareness Day. Observed annually, the June 9 Awareness Day calls attention…

Gene therapy was able to reduce the signs and symptoms of late infantile Batten disease in a mouse model carrying a common disease-causing mutation, a study shows. These findings support Regenxbio’s ongoing gene therapy program, which includes RGX-181, currently being tested as part of a single-patient study…

Changes in the levels of certain metabolites in the brain among people with juvenile Batten disease, also called CLN3 disease, are significantly associated with multiple measures of disease severity, a study showed. Age accounted for many of these metabolite changes. Still, the levels of some brain metabolites — the…

In rare cases, people with juvenile Batten disease may go years or even decades without developing seizures after the onset of vision problems, a new study highlights. Findings suggest that diagnostic delays are common for this rare form of the disease, so researchers urge clinicians to consider it as…

The U.S. Food and Drug Administration (FDA) has cleared the design of a pivotal Phase 3 trial to test Theranexus’ investigational therapy Batten-1 in children and adolescents with juvenile Batten disease. This was the result of a mid-April meeting between the FDA’s Division of Rare Diseases and Medical…