Patricia Inácio, PhD,  science writer—

A new mutation in the KCTD7 gene was identified in a boy as the cause of CLN14 disease, a rare form of infantile-onset Batten disease. The report, “A novel pathogenic variant in the KCTD7 gene in a patient with neuronal ceroid lipofuscinosis (CLN14): a case report and review of the…

The University of Rochester Batten Center (URBC) was designated a Center of Excellence by the Batten Disease Support, Research, and Advocacy (BDSRA) Foundation in recognition of its efforts at advancing care and research for Batten disease. The BDSRA Center of Excellence Program seeks to improve outcomes in Batten…

A first patient has been dosed in a Phase 1/2 clinical trial testing the gene therapy RGX-381 — one of two in Regenxbio‘s pipeline for late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease — as a treatment for the most common form of Batten disease, the…

Delivering a CLN5-targeted gene therapy simultaneously to the brain and eye in a sheep model of late infantile Batten disease was found to slow or even halt disease progression, a study reported. The disease was slowed in sheep treated in the pre-symptomatic stages — before showing any signs of the…

Use of the cholesterol medication gemfibrozil — a fat-lowering therapy — reduced brain inflammation and improved motor function in a mouse model of juvenile Batten disease, a new study reports. These therapeutic benefits were mediated by the activation of peroxisome proliferator-activated receptor-alpha, known as PPAR-alpha. This receptor protein…

Treatment for up to two months with Batten-1 — Theranexus’ novel therapy for juvenile Batten disease, also known as CLN3 disease — was found to be generally safe and well-tolerated in patients ages 17 and older. That’s according to early data from an ongoing two-year Phase 1/2…

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…

Amicus Therapeutics announced it will discontinue its investigational gene therapy program of AT-GTX-501 for late infantile neuronal ceroid lipofuscinosis 6 disease, also known as CLN6 Batten disease. The company is, however, advancing its gene therapy program for juvenile Batten disease, also known as CLN3 disease, according to a press release.

Rarebase, a public benefit biotechnology company, has launched the Function therapeutic discovery platform specifically for rare neurological diseases, including Batten disease. Led by scientists, engineers, patients, and advocates, Function combines large-scale therapeutic screening with genetic screens, all conducted in nerve cells (neurons) grown in a dish. The combination…

The Beyond Batten Disease Foundation (BBDF) is sponsoring Care Beyond Diagnosis in its efforts to draft international guidelines to help clinicians counsel and treat patients with CLN3 disease, or juvenile Batten disease. Based on clinical evidence and consensus-based recommendations, the guidelines are designed to improve patient care…