Lindsey Shapiro, PhD,  science writer—

A small molecule inhibitor of the sortilin protein reduced cellular waste product accumulation and eased neuroinflammation in mouse models of late-infantile and juvenile forms of Batten disease in a recent study. The treatment also completely eliminated tremors in a model of late-infantile…

Digital biomarkers are a feasible way to remotely monitor motor function in people with rare neurological diseases, but more work is needed to validate the approach, according to a recent review study. Use of such outcome measures could help make it easier to conduct robust clinical trials for rare diseases,…

CLN5-targeted gene therapy safely preserved clinical function, prolonged survival, and prevented brain tissue atrophy in a sheep model of CLN5 disease, a form of late-infantile Batten disease, in a recent study. The benefits were observed in sheep at both pre- and post- symptomatic stages, and the evidence suggests higher…

Researchers have developed a new minipig model of juvenile Batten disease that recapitulates some key features of the human condition, including vision loss and gait abnormalities. Despite certain limitations, scientists believe these miniswine are more translatable to the human disease compared with mouse models of juvenile Batten, also known…

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,…

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…

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…