Marta Figueiredo, PhD, science writer —

The number of activated microglia — the brain’s resident immune cells — are significantly increased by the time seizures start to occur in a mouse model of infantile Batten disease, also known as CLN1 disease, a study shows. Suppressing P2X7R, a receptor protein mainly found at the surface of…

The layers of the retina — the part of the eye that’s damaged in Batten disease — are differently affected and show a distinct progression between naturally occurring sheep models of CLN5 and CLN6 disease, a study shows. Notably, all retinal layers were affected in sheep with CLN6 disease.

During the COVID-19 pandemic in England, treatment with Brineura (cerliponase alfa) was considered “essential” for children with neuronal ceroid lipofuscinosis type 2 (CLN2) — also called late infantile Batten disease. That resulted in no patients missing any doses of the therapy, which is designed to slow the progressive…

Mutations in the CLN6 gene — which have been associated with different forms of Batten disease — may lead to the development of an atypical form of juvenile Batten that does not cause vision loss, according to a study reporting the cases of three patients from two Greek-Cypriot…

An international team of experts has developed a set of consensus-based, family-informed recommendations for the diagnosis and best care management of neuronal ceroid lipofuscinosis type 1 (CLN1) disease. The guidelines were outlined in a report, “Management of CLN1 Disease: International Clinical Consensus,” published in the journal…

A screening of U.S.-approved therapies revealed that tamoxifen, an oral cancer therapy, is able to effectively reduce the accumulation of a fatty molecule called globotriaosylceramide, or Gb3, in cellular models of two forms of Batten disease. It worked without compromising cell survival, a study showed. That study found that…

A gene therapy designed to deliver a working version of the CLN8 gene — the one mutated in people with CLN8, a form of late-infantile Batten disease — prolonged the survival, reduced disease-associated brain features, and partially corrected motor problems in a mouse model. The findings, likely representing one of…

Two years of treatment with Brineura (cerliponase alfa) safely and effectively delayed the onset of late-infantile Batten disease in a 23-month-old boy who had not exhibited symptoms when he started treatment, a case study shows. The same treatment slowed disease progression in his older sister, who received the therapy…

People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare disease patients overall give their healthcare experience a medium-low rating, of 2.5 on a scale of 1 to 5,…

A single injection into the brain of an investigational gene therapy now in clinical trials partly prevented retinal degeneration and vision loss in a mouse model of CLN6 Batten disease, a study shows. These findings mark the first report of a brain-delivered gene therapy reaching both the brain and…