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A treatment using stem cells modified to produce PPT1 — the missing enzyme in infantile Batten disease — prevented symptoms from developing and substantially extended survival in a mouse model of the disease, a study reports. It also prolonged survival and slowed disease progression when given to mice that…
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…
A new mutation in the MFSD8 gene was identified as the cause of CLN7 disease, a form of late-infantile Batten disease, in a young Italian girl with developmental regression and a smaller-than-normal head, a case report shows. “Our case is discussed to highlight the pivotal role of clinical genetics, and of a…
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…
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…
The levels of abnormal storage material inside certain immune cells could be used as a biomarker of disease activity and response to treatment with late infantile Batten disease, or CLN2 disease, a new study shows. Data showed that over three years of treatment with Brineura (cerliponase alfa) —…
Regenxbio says it will test RGX-381, its investigational gene therapy for eye problems associated with neuronal ceroid lipofuscinosis type 2 (CLN2) disease, in a first-in-human Phase 1/2 clinical trial that remains on track to begin in the first half of this year. The trial will evaluate the one-time…
Vision problems — specifically deteriorating visual acuity and quality — were some of the first symptoms of juvenile Batten disease detected in four children with the rare inherited disorder, also known as CLN3 disease, according to a new study. These early vision problems appeared before or alongside other neurological…
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…
Neurogene has decided to discontinue its research program focusing on CLN7, a form of late-infantile Batten disease, including the CLN7 portion of its natural history study. The goal of this natural history study (NCT03822650), focused on patients with CLN7 and CLN5 forms of Batten disease, is to…
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